Does a genetic disease/disorder run in your family?

This information regarding select genetic disorders and diseases is found in the Genetic and Rare Diseases Information Center (GARD) website.  More extensive information on these and thousands of additional disorders and diseases is available through the following websites:

https://rarediseases.info.nih.gov/diseases/browse-by-first-letter
https://www.diseaseinfosearch.org

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys.  Symptoms vary in severity and age of onset, but usually develop between the ages of 30 and 40.  ADPKD is a progressive disease and symptoms tend to get worse over time.  The most common symptoms are kidney cysts, pain in the back and the sides and headaches.  Other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, and brain aneurysms.  ADPKD is most often caused by changes in the PKD1 and PKD2 genes, and less often by changes in the GANAB and DNAJB11 genes.  It is inherited in a dominant pattern.  Treatment for DPKD involves managing the symptoms and slowing disease progression.  The most serious complication of ADPKD is kidney disease and kidney failure.  ADPKD is the most common inherited disorder of the kidneys.1

Organizations supporting this disease:

PKD Foundation
https://pkdcure.org

American Association of Kidney Patients
http://www.aakp.org

American Kidney Fund, Inc.
http://www.kidneyfund.org

National Kidney Foundation
https://kidney.org

The Kidney Foundation of Canada
http://www.kidney.ca

BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers.  Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70.  Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer.  BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined.  This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner.  Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.1

Organizations supporting this disease:

BRCAStrong
http://www.brcastrong.org

Bright Pink
http://www.brightpink.org

FORCE:  Facing Our Risk of Cancer Empowered
http://www.facingourrisk.org

Minnesota Ovarian Cancer Alliance
http://mnovarian.org

National Ovarian Cancer Coalition
http://www.ovarian.org

Ovarian Cancer Research Alliance
https://ocrahope.org

The National Breast Cancer Coalition/Fund
http://www.stopbreastcancer.org

The Susan G. Komen Breast Cancer Foundation
http://ww5.komen.org

Organizations providing general support:

American Cancer Society
https://www.cancer.org

BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers.  Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70.  Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer.  Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer.  BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined.  This condition is caused by changed (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner.  Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.1

Organizations supporting this disease:

BRCAStrong
http://www.brcastrong.org

Bright Pink
http://www.brightpink.org

FORCE:  Facing Our Risk of Cancer Empowered
http://www.facingourrisk.org

Minnesota Ovarian Cancer Alliance
http://mnovarian.org

National Ovarian Cancer Coalition
http://www.ovarian.org

Ovarian Cancer Research Alliance
https://ocrahope.org

The National Breast Cancer Coalition/Fund
http://www.stopbreastcancer.org

The Susan G. Komen Breast Cancer Foundation
http://ww5.komen.org

Organizations providing general support:

American Cancer Society
https://www.cancer.org

Brugada syndrome is a heart condition that causes a disruption of the normal rhythm in the heart’s lower chambers (ventricular arrhythmia).  Signs and symptoms usually develop in adulthood but the diagnosis may be made at any age.  Symptoms and complications often occur during rest or sleep, and may include fainting, seizures, difficulty breathing, or sudden death.  The underlying genetic case of inherited forms of Brugada syndrome is not known in most cases, but in up to 20-30% of people with Brugada syndrome, it is caused by a mutation in the SCN5A gene.  A number of other genes have been reported to be associated with Brugada Syndrome in the literature, but the role they play in causing Brugada syndrome remains to be clearly defined.  The genetic form of Brugada syndrome typically is inherited in an autosomal dominant manner.  An acquired (nongenetic) form has been associated with certain drugs; abnormally high blood levels of calcium or potassium; or very low levels of potassium.  In some cases, the cause of Brugada syndrome is unknown.  Treatment may include use of an implantable cardioverter defibrillator (IC).1

Organizations supporting this disease:

Brugada Foundation
https://www.brugada.org/en

Sudden Arrhythmia Death Syndromes Foundation
http://www.sads.org

Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas.  Signs and symptoms may include salty-tasting skin; persistent coughing; frequent lung infections; wheezing or shortness of breath; poor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility.  Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.  CFR is caused by mutations in the CFTR gene and inheritance is autosomal recessive.  Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, and nutritional supplements.  Newer medications such as CFTR modulators have been approved for use in the United States.  Ongoing research is focused on finding a cure for the disease.1

Organizations supporting this disease:

Cystic Fibrosis Foundation
https://www.cff.org

Cystic Fibrosis Research, Inc.
https://cfri.org

Jewish Genetic Disease Consortium (JGDC)
http://www.JewishGeneticDiseases.org

Organizations providing general support:

American Lung Association
https://www.lung.org

Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, with small nose and an upward slant to the eyes, and low muscle tone in infancy.  The degree of intellectual disability varies from mild to moderate.  People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities, as well as short stature and a single deep crease across the center of the palm.  They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism hearing and vision problems, leukemia, and Alzheimer disease.  Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited.  Treatment focuses on the specific symptoms in each person.  There is ongoing research about the specific genes causing the disease aiming to find more effective treatments.1

Organizations supporting this disease:

Association for Children with Down Syndrome, Inc.
http://www.acds.org

Canadian Down Syndrome Society
http://www.cdss.ca

Down Syndrome Diagnosis Network
http://www.dsdiagnosisnetwork.org

GiGi’s Playhouse
http://gigisplayhouse.org

LuMind Research Down Syndrome Foundation
https://www.lumindidsc.org

National Association for Down Syndrome
http://www.nads.org

National Down Syndrome Congress
http://www.ndsccenter.org

National Down Syndrome Society
http://www.ndss.org

Duchenne muscular dystrophy (DMD) is a genetic condition that affects the muscles, leading to muscle wasting that gets worse over time.  DMD occurs primarily in males, though in rare cases may affect females.  The symptoms of DMD include progressive weakness and loss (atrophy) of skeletal and heart muscles.  Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak.  Muscle weakness is usually noticeable in early childhood.  Most children with DMD use a wheelchair by their early teens.  Heart and breathing problems also begin in the teen years and lead to serious, life-threatening complications.  DMD is caused by genetic changes (DNA variants) in the DMD gene.  DMD is inherited in an x-linked recessive pattern and may occur in people who do not have a family history of DMD.  While there is no known cure for DMD, there are treatments that can help control symptoms.  Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by DNA variants in the DMD gene.1

Organizations supporting this disease:

Coalition Duchenne
http://www.coalitionduchenne.org

CureDuchenne
https://www.cureduchenne.org

Jett Foundation
https://www.jettfoundation.org

Muscular Dystrophy Family Foundation
https://mdff.org

Muscular Dystrophy UK
https://www.musculardystrophyuk.org

Parent Project Muscular Dystrophy
https://www.parentprojectmd.org

Stand for Duchenne Canada
https://duchennecanada.org

Familial Alzheimer disease (familial AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially.  About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD).  When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial.  These cases appear to be inherited in an autosomal dominant manner.

There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes.

  • Alzheimer disease, type 1 is caused by mutations in the APP gene
  • Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene
  • Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene

The condition known as late-onset familial AD includes only the subtype Alzheimer disease, type 2 and is associated with the APOE*4 allele on chromosome 19.  This condition results in an increased risk of having AD.1

Organizations supporting this disease:

Alzheimer’s Association
https://www.alz.org

Alzheimer’s Disease Education and Referral Center (ADEAR)
https://www.nia.nih.gov/health/alzheimers

Alzheimer’s Foundation of America
https://alzfdn.org

Familial colorectal cancer is a cluster of colon cancer within a family.  Most cases of colon cancer occur sporadically in people with little to no family history of the condition.  Approximately 3-5% of colon cancer is considered “hereditary” and is thought to be caused by an inherited predisposition to colon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner.  In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC, MYH, MLH1, MSH2, MSH6, PMS2, EPCAM, PTEN, STK11, SMAD4, BMPR1A, NTHL1, POLE, and POLD1 genes (which are associated with hereditary cancer syndromes).  An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer.  These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle.  High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.  Also see Lynch syndrome.1

Organizations supporting this disease:

Colon Cancer Alliance
https://www.ccalliance.org

Fight Colorectal Cancer
https://fightcolorectalcancer.org

Hereditary Colon Cancer Foundation
https://www.hcctakesguts.org

Dilated cardiomyopathy (DCM) is a disease of the heart muscle which primarily affects the heart’s main pumping chamber, the left ventricle.  It is the most common type of cardiomyopathy and typically affects those aged 20 to 60.  The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can.  The heart muscle also has difficulty contracting normally, which can lead to irregular heartbeats (arrhythmia), blood clots, or sudden death.  Over time, the heart becomes weaker and heart failure can occur.  While the cause of dilated cardiomyopathy is often unknown, some cases are acquired and roughly half are inherited or familial.  Also, DCM can be a feature of many genetic syndromes.  Familial dilated cardiomyopathy is most often inherited in an autosomal dominant pattern.  Familial dilated cardiomyopathy is caused by mutations in several different genes, most commonly in the TTN gene (found in about 20% of cases).  DCM treatment may include medication, pacemakers, implantable cardiac defibrillators, or heart transplantation.1

Organizations supporting this disease:

American Heart Association
https://www.heart.org

Cardiomyopathy Association
http://www.cardiomyopathy.org

DCM Foundation
https://www.dcmfoundation.org

Heart Failure Society of America (HFSA)
http://www.hfsa.org

Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene.  People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin).  Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion.  There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene.  However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.1

Organizations supporting this disease:

American Heart Association
https://www.heart.org

The FH Foundation
http://www.thefhfoundation.org

Organizations providing general support:

American Stroke Association
http://www.strokeassociation.org

Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle.  The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum).  This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood.  Signs and symptoms can vary.  While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting.  Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death.  Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner.  Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).1

Organizations supporting this disease:

American Heart Association
https://www.heart.org

Heart Failure Society of America (HFSA)
http://www.hfsa.org

Heart Rhythm Society
http://www.hrsonline.org

Hypertrophic Cardiomyopathy
Association (HCMA)
http://www.4hcm.org

The Children’s Heart Foundation
http://www.childrensheartfoundation.org

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome.  This condition causes a range of developmental problems including learning disabilities and cognitive impairment.  It is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females.  Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features.  Fragile X syndrome is cased by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner.  There is no cure yet and treatment is based on the symptoms present in the person.  Early physical and education therapy is recommended.1

Organizations supporting this disease:

Developmental Delay Resources (DDR)
http://www.devdelay.org

FRAXA Research Foundation
http://www.fraxa.org

National Fragile X Foundation
http://www.FragileX.org

The Fragile X Society
http://www.fragilex.org.uk

Organizations providing general support:

American Association on Intellectual and Developmental Disabilities
http://www.aaidd.org

The Society for Developmental and Behavioral Pediatrics
http://www.sdbp.org/index.cfm

Hemophilia is a bleeding disorder that slows the blood clotting process.  People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled.  In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury.  Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs.  The major types of this disorder are hemophilia A and hemophilia B.  Although the two types have very similar signs and symptoms, they are caused by mutations in different genes.  People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty.  Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.1

Organizations supporting this disease:

Canadian Hemophilia Society
https://www.hemophilia.ca

Hemophilia Federation of America (HFA)
http://www.hemophiliafed.org

National Hemophilia Foundation
https://www.hemophilia.org

World Federation of Hemophilia
https://www.wfh.org/en

Huntington’s disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain.  Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems.  People with HD usually live for about 15 to 20 years after the condition begins.  It is caused by changes (mutations) in the HTT gene and is inherited in an autosomal dominant manner.  Treatment is based on the symptoms present in each person and may include various medications.  There is also a less common, early-onset form of HD which begins in childhood or adolescence called juvenile Huntington disease.1

Organizations supporting this disease:

CHDI Foundation
http://chdifoundation.org

Hereditary Disease Foundation
http://www.hdfoundation.org

HOPES
http://hopes.stanford.edu

Huntington Society of Canada
http://www.huntingtonsociety.ca

Huntington’s Disease Society of America
http://www.hdsa.org

Huntington’s Disease Youth Organization
https://en.hdyo.org

International Huntington Association
http://www.huntington-disease.org

International Parkinson and Movement Disorder Society
https://www.movementdisorders.org

Parkinson & Movement Disorder Alliance (PMD Alliance)
https://www.pmdalliance.org

Long QT Syndrome is a disorder of the heart’s electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death.  Long QT syndrome can be detected by electrocardiogram (EKG).  It can be caused by a variety of different genetic mutations (changes).  It can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions.1

Organizations supporting this disease:

Sudden Arrhythmia Death Syndromes Foundation
http://www.sads.org

Lynch syndrome is a genetic disorder that causes an increased risk of developing certain types of cancer such as color and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate.  Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer.  Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps.  Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.  Treatment of colon cancer is surgical removal of the affected part of the colon (colectomy).  People with Lynch syndrome should have routine colonoscopies.1

Organizations supporting this disease:

AliveAndKickn
http://aliveandkickn.org

AMC Cancer Research Center
http://www.amc.org

CCARE Lynch Syndrome
http://www.fightlynch.org

Collaborative Group of the Americas in Inherited Colorectal Cancer (CGA)
http://www.cgaigc.com

Colon Cancer Alliance
https://www.ccalliance.org

Fight Colorectal Cancer
https://fightcolorectalcancer.org

Hereditary Colon Cancer Foundation
https://www.hcctakesguts.org

Lynch Syndrome International (LSI)
https://lynchcancers.com

Organizations providing general support:

American Cancer Society
https://www.cancer.org

Cancer Hope Network
https://www.cancerhopenetwork.org

Marfan syndrome is a disorder of the connective tissue.  Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves.  Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).  It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1.  Marfan syndrome is inherited in an autosomal dominant pattern.  At least 25% of cases are due to a new (de novo) mutation.  Treatment is based on the signs and symptoms in each person.1

Organizations supporting this disease:

Genetic Aortic Disorders Association Canada (GADA Canada)
http://www.gadacanada.org

Hypermobility Syndromes Association (HMSA)
http://hypermobility.org

Scoliosis Research Society (SRS)
https://www.srs.org

The Marfan Foundation
https://www.marfan.org

Parkinson disease (PD) is a neurologic disease that affects movement.  The four main symptoms are tremors of the hands, arms, legs, jaw, or head, specially at rest; rigidity, or stiffness; bradykinesia, or slow movement; and postural instability or inability to find balance.  The symptoms start slowly, but progress over time, impairing everyday activities such as walking, talking, or completing simple tasks.  Other symptoms may include emotional problems, trouble swallowing and speaking; urinary problems or constipation; skin problems; sleep problems, low blood pressure when standing up from sitting or lying down (postural hypotension), and inexpressive face.  Some people will lose their mental abilities (dementia).

Parkinson disease affects several regions of the brain, especially a region known as “substantia nigra” that helps controlling balance and movement.  Most cases of PD are sporadic (with no family history), and with onset around 60 years of age; onset before age 20 is considered to be juvenile-onset Parkinson disease, and after age 50 years is considered late-onset Parkinson disease.  However, in some families, there are several cases of Parkinson disease.  Familial cases of Parkinson disease, and maybe some sporadic cases, can be caused by changes (mutations) in several genes, such as:

  • Mutations in the SNCA (PARK1), LRRK2 (PARK8), and VPS35 (PARK17) genes are inherited in an autosomal dominant manner
  • Mutations in genes PARK2, PARK7, and PINK1 (PARK6) appear to be inherited in a recessive manner
  • Very rare mutations in the TAF1 gene cause Parkinson disease with X-linked inheritance
  • Mutations in some genes, including GBA and UCHL1 (PARK5), do not seem to cause Parkinson disease, but to increase the risk of developing the disease in some families

Autosomal recessive PD has earlier onset than autosomal dominant PD.  Some studies suggest that these genes are also involved in early-onset or juvenile PD.  However, inheriting a mutation does not always mean that a person will have PD, because there may be other genes and environmental factors determining who will develop PD.1

Organizations supporting this disease:

American Parkinson Disease Association
https://www.apdaparkinson.org

International Parkinson and Movement Disorder Society
https://www.movementdisorders.org

Michael J. Fox Foundation for Parkinson’s Research
https://www.michaeljfox.org

Parkinson & Movement Disorder Alliance (PMD Alliance)
https://www.pmdalliance.org

Parkinson’s Foundation
https://www.parkinson.org

Parkinson’s Patients Support Groups, Inc.
http://www.ppsg.org

Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape.  These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells).  The sickle cells also get stuck in blood vessels, blocking blood flow.  Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises).  This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern.  Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions.1

Organizations supporting this disease:

American Sickle Cell Anemia Association
http://www.ascaa.org

European Network for Rare and Congenital Anaemias (ENERCA)
http://www.enerca.org

Sickle Cell Consortium
http://sicklecellconsortium.org

Sickle Cell Disease Association of America
http://www.sicklecelldisease.org

The Sickle Cell Information Center
http://www.scinfo.org

Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen).  This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.  There are two main types of thalassemia, alpha thalassemia and beta thalassemia.  Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue, yellow discoloration of skin (jaundice), and bone problems.  Beta thalassemia is caused by changes (mutations) in the HBB gene while alpa thalassemia is caused by mutations in the HBA1 and/or HBA2 genes.  Both are inherited in an autosomal recessive manner.  Treatment depends on the type and severity of the condition but may include blood transfusions and/or folic acid supplements.  Genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia.  Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.1

Organizations supporting this disease:

Cooley’s Anemia Foundation
http://www.thalassemia.org

European Network for Rare and Congenital Anaemias (ENERCA)
http://www.enerca.org

Thalassaemia International Federation
https://thalassaemia.org.cy

1Courtesy of the Genetic and Rare Diseases Information Center (GARD); www.rarediseases:info.nih.gov

This information regarding select genetic diseases was provided by the Genetic and Rare Diseases Information Center (GARD).  See the GARD website for information on thousands of additional diseases, available in both English and Spanish.