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Welcome to the resource page for Sephardic Jewish genetic diseases. “Sephardic” is the term originally used for Jews who descended primarily from Spain and Portugal, but now also includes Jews descended from the Middle East and Northern Africa. Sephardic Jews have different risks than do Ashkenazi Jews, and the specific diseases they are at risk for are listed by country of origin. Many of these disorders are mild, making screening in the general population unnecessary. If you are interested in learning more about the diseases you are at higher risk of being a carrier for, we recommend that you print the list from the country of origin of your ancestors, and bring it with you to your doctor or genetic counselor for further discussion about the diseases and the availability of screening.
Please click a link below to find out more about Sephardic Jewish Genetic Diseases in that region:
Morocco / Tunisia / Algeria
Libya
Iran
Iraq
Syria
Yemen
| Iran | ||
| Disease | Carrier Frequency | Carrier Testing Available |
| Pseudocholinesterase Deficiency – causes sensitivity to certain anesthesia drugs. Affected individuals often do not know they have the disease until they are exposed to anesthesia or similar medications. If known, affected individuals can avoid the anesthesia agents or medications that they cannot tolerate. | 1 in 10 | Limited * |
| Congenital Hyperaldosteronism – is a salt-losing disorder that can vary greatly from person to person. In more severe cases, dangerous dehydration and shock can occur in the newborn period. Milder cases may not exhibit symptoms until childhood, including poor weight gain, short stature, weakness and salt cravings. If this disorder is identified in a fetus prior to birth, treatment can be started before problems arise. | 1 in 30 | Limited * |
| Polyglandular Deficiency - Depending on which glands are affected, polyglandular deficiency can result in a range of symptoms from skin infections, fatigue and nausea, to muscle spasms, depression and infertility. This disease can be treated with hormone-replacement therapy. | 1 in 50 | Limited * |
| Hereditary Inclusion Body Myopathy – is characterized by muscle weakness which usually first manifests when a person is in his or her 20s or 30s. The disease progresses slowly, but most individuals affected become severely debilitated a decade after onset. There is no treatment or cure. | 1 in 20 | Limited * |
| Beta Thalassemia - is characterized by reduced synthesis of the hemoglobin beta chain that results in severe anemia and an enlarged liver and spleen. Treatment involves blood transfusions. There is no cure. | 1 in 6 | Yes |
| Factor VII Deficiency - is an inherited disorder in which a lack (deficiency) of plasma protein factor VII leads to abnormal bleeding. The condition is variable. The disease may present early in life with gastrointestinal bleeding or intracranial bleeding. More mildly affected individuals may just experience frequent nose bleeds and have a difficult time stopping bleeding following surgery or medical procedures. Treatment is available by giving clotting factor replacement. | 1 in 40 | Yes |
| Familial Mediterranean Fever - is characterized by recurrent fevers and painful inflammation of the abdomen, lungs and joints. Treatment involves taking colchicine, a drug that reduces inflammation and can prevent “attacks” from occurring | 1 in 5 to 1 in 7 | Yes |
| Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD) – People with G6PD are healthy. The most common early sign of G6PD is jaundice. Anemia can occur and it may be sudden if the affected person is exposed to certain foods and medications. Life expectancy for individuals affected with G-6-PD deficiency is not significantly decreased. Treatment is the avoidance of foods and medications that cause anemia including, most commonly, moth balls, fava beans and aspirin. | 1 in 4 males | Yes |
| *Testing not readily available by a commercial laboratory. Testing may only be performed at a private institution and/or may require an affected family member. Consult a genetic counselor for further assistance. | ||
| Morocco / Tunisia / Algeria | ||
| Disease | Carrier Frequency | Carrier Testing Available |
| Ataxia Telangiectasia - a multisystem autosomal recessive disorder characterized by progressive cerebellar degeneration, developmental defects in specific tissues, immunodeficiency, chromosomal instability, predisposition to certain cancers, and radiosensitivity. One mutation, 103C >T, is more prevalent in Northern African Jews. | 1 in 80 | Limited * |
| Fanconi Anemia – is characterized by a reduced number of all types of blood cells in the body, leading to bone marrow failure. Individuals with Fanconi anemia are usually smaller than average. Other symptoms associated with the disease may include missing bones in the thumbs and arms, increased risk for cancer and leukemia, brown coloring to the skin, and kidney problems. Ultimately, Fanconi anemia affects all systems of the body. Patients rarely reach adulthood. | 1 in 100 | Yes |
| Cystic Fibrosis - is a disease that makes the body produce an abnormally thick, sticky mucus. This is what happens when cells in the lungs and pancreas fail to transport salt in the body where it needs to go. The thick mucus also blocks digestive enzymes from reaching the intestines where they are supposed to break down and digest food. | 1 in 50 | Limited * |
| Glycogen Storage Disease Type IIIa - is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and heart muscle and/or liver, which may lead to permanent organ damage. Affected individuals require constant and meticulous dietary management to ensure adequate blood glucose levels throughout the day and night. | 1 in 35 | Limited * |
| Familial Mediterranean Fever – is characterized by recurrent fevers and painful inflammation of the abdomen, lungs and joints. Treatment involves taking colchicines, a drug that reduces inflammation and can prevent “attacks” from occurring. | 1 in 7 | Yes |
| Tay-Sachs disease - causes progressive degeneration and destruction of the central nervous system in affected individuals. Babies born with Tay-Sachs disease appear normal at birth, and symptoms of the disease do not appear until the infants are about four to six months of age. It is at this time that these children begin to lose previously attained skills, such as sitting up or rolling over. They gradually lose their sight, hearing and swallowing abilities. There is severe developmental delay. These children usually die by the age of four. | 1 in 110 | Yes |
| 11 Beta Hydroxylase deficiency (Congenital Adrenal Hyperplasia) – Patients with 11-beta-hydroxylase deficiency have clinical features of androgen excess, such as premature sexual maturation observed in boys and virilization in females. These symptoms are the result of excess adrenal androgen production, and may be present at birth or develop in early childhood. Additionally, about 2/3 of affected individuals develop mild to moderate hypertension. | 1 in 30 to 1 in 128 (Morocco) |
Limited * |
| Factor VII Deficiency - is an inherited disorder in which a lack (deficiency) of plasma protein factor VII leads to abnormal bleeding. The condition is variable. The disease may present early in life with gastrointestinal bleeding or intracranial bleeding. More mildly affected individuals may just experience frequent nose bleeds and have a difficult time stopping bleeding following surgery or medical procedures. Treatment is available by giving clotting factor replacement. | 1 in 42 | Yes |
| *Testing not readily available by a commercial laboratory. Testing may only be performed at a private institution and/or may require an affected family member. Consult a genetic counselor for further assistance. | ||
| Syria | ||
| Disease | Carrier Frequency | Carrier Testing Available |
| Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD) – People with G6PD are healthy. The most common early sign of G6PD is jaundice. Anemia can occur and it may be sudden if the affected person is exposed to certain foods and medications. Life expectancy for individuals affected with G-6-PD deficiency is not significantly decreased. Treatment is the avoidance of foods and medications that cause anemia including, most commonly, moth balls, fava beans and aspirin. | 1 in 27 | Yes |
| Anophthalmia/ Microphthalmia – Anophthalmia (absence of eye tissue in the orbit) and microphthalmia (small eye) are rare birth defects with an incidence of about 1-3 in 10,000 live births. There are many genetic causes of anophthalmia/microphthalmia and it may occur as an isolated finding or part of a group of findings known as a syndrome. In the Syrian Sephardic population, a mutation the gene CHX10 (also known as VSX2) has been associated with A/M. | unknown | Yes |
| Renal tubular acidosis with progressive sensorineural hearing loss – Distal renal tubular acidosis is caused by a defect in the kidney tubes that causes acid to build up in the bloodstream. This results in metabolic acidosis, poor growth, calcium deposits in the urinary tract and rickets. About 1/3 of patients have progressive and irreversible sensorineural hearing loss which may be asymmetrical, observed prior to age 10 years. The hearing loss may be noted as young as 3 months and hearing tests should be ongoing in all children diagnosed with renal tubular acidosis. Cochlear implants can help improve hearing. The acidosis can be treated to restore the normal pH (acid-base level) and electrolyte balance. This will indirectly correct bone disorders and reduce the risk of calcium build-up in the kidneys and kidney stones. | Unknown | Limited * |
| Roberts syndrome – Roberts syndrome (RBS) is characterized by prenatal growth retardation (ranging from mild to severe) and limb malformations. Upper limbs are more severely affected than lower limbs. Cleft lip and/or cleft palate, and other unusual facial features have been observed like small chin, widely spaced eyes, shallow orbits, corneal clouding, narrow, beaked nose, and ear malformations. Mental retardation is reported in the majority of affected individuals. Mortality is high among severely affected pregnancies and newborns. Mildly affected individuals may survive to adulthood. Treatment aims to improve quality of life but there is no cure. | unknown | Limited * |
| Striate keratoderma- Striate keratoderma is characterized by a thickening of the skin on the palms and soles. The hyperkeratosis looks like linear brown-grayish streaks of thickened skin extending along the length of each finger and on the palm of the hand, as well as patches of hyperkeratosis on the soles. This appears around the first to second decades. Oral and local therapy is available. | This is a dominant condition so there are no carriers. Those with the mutated gene have the disease. | Limited * |
| *Testing not readily available by a commercial laboratory. Testing may only be performed at a private institution and/or may require an affected family member. Consult a genetic counselor for further assistance. | ||
| Libya | ||
| Disease | Carrier Frequency | Carrier Testing Available |
| Limb Girdle Muscular Dystrophy type 2B – is characterized by weakness and wasting of various skeletal muscles, predominantly in the shoulders and hips. Symptoms usually begin to develop in the third or fourth decade of life. The disease is progressive, and there is no known cure. | 1 in 10 | Limited * |
| Megalencephalic Leukoencephalopathy – is characterized clinically by a large head and mild neurological symptoms such as ataxia, spasticity and remarkably slow course of functional deterioration. The MRI features include 'swollen white matter' with large symmetrical cystic changes in the brain. | 1 in 40 to 1 in 50 |
None in USA |
| Cystinuria (non-type 1) – is a defect in which there is inadequate reabsorbtion of cystine in the kidneys, thus leading to abnormally high levels of cystine in the urine. This excess of cystine can crystallize, thus leading to stones in the kidneys, ureter, and bladder. Stones can begin to develop as early as the teens or 20’s. Treatment is aimed at reducing the incidence of stones. | 1 in 25 | None in USA |
| Familial Mediterranean Fever - is characterized by recurrent fevers and painful inflammation of the abdomen, lungs and joints. Treatment involves taking colchicine, a drug that reduces inflammation and can prevent “attacks” from occurring. | 1 in 5 to 1 in 7 |
Yes |
| Oculocutaneous Albinism (type 1) - Oculocutaneous Albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. | 1 in 30 | Limited * |
| Tay-Sachs disease - causes progressive degeneration and destruction of the central nervous system in affected individuals. Babies born with Tay-Sachs disease appear normal at birth, and symptoms of the disease do not appear until the infants are about four to six months of age. It is at this time that these children begin to lose previously attained skills, such as sitting up or rolling over. They gradually lose their sight, hearing and swallowing abilities. | >1 in 110 | Yes |
| *Testing not readily available by a commercial laboratory. Testing may only be performed at a private institution and/or may require an affected family member. Consult a genetic counselor for further assistance. | ||
| Yemen | ||
| Disease | Carrier Frequency | Carrier Testing Available |
| Cystic Fibrosis - is a disease that makes the body produce an abnormally thick, sticky mucus. This is what happens when cells in the lungs and pancreas fail to transport salt in the body where it needs to go. The thick mucus also blocks digestive enzymes from reaching the intestines where they are supposed to break down and digest food. | unknown | Yes |
| Phenylketonuria (PKU) – PKU is a condition in which the body cannot break down the amino acid phenylalanine, causing it to build up in the body which disrupts brain development. If untreated, symptoms of PKU include severe mental retardation, mood disorders, irregular motor functioning and abnormal behavior such as ADHD. Treatment involves dietary control. All PKU patients must adhere to a special diet low in phenylalanine for the rest of their lives. This requires severely restricting or eliminating foods high in phenylalanine, such as meat, chicken, fish, nuts, cheese, legumes and other dairy products. | 1 in 35 | Yes |
| Metachromatic Leukodystrophy (MLD) late infantile form – the most common of the MLD’s, affected children have difficulty walking after the first year of life. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, progressive loss of vision leading to blindness, convulsions, impaired swallowing, paralysis, and dementia. Children may become comatose. Most children with this form of MLD die by age 5. | 1 in 50 | Limited* |
| Alpha Thalassemia - Alpha-thalassemia (a-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. Hb Bart syndrome, the most severe form, is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia, in the absence of ABO or Rh blood group incompatibility. Clinical features include: enlarged liver and spleen, hydrocephaly, and cardiac and urogenital defects. Death usually occurs in the neonatal period. HbH disease is characterized by microcytic hypochromic hemolytic anemia, hepatosplenomegaly, mild jaundice, and sometimes thalassemia-like bone changes. | 1 in 8 | Yes |
| *Testing not readily available by a commercial laboratory. Testing may only be performed at a private institution and/or may require an affected family member. Consult a genetic counselor for further assistance. | ||
| Iraq | ||
| Disease | Carrier Frequency | Carrier Testing Available |
| Cystic Fibrosis - is a disease that makes the body produce an abnormally thick, sticky mucus. This is what happens when cells in the lungs and pancreas fail to transport salt in the body where it needs to go. The thick mucus also blocks digestive enzymes from reaching the intestines where they are supposed to break down and digest food. | unknown | Yes |
| 3-Methyl Glutaconic Aciduria (Costeff Optic Atrophy Syndrome) – is characterized by degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Other nervous system problems might occur, such as an inability to maintain posture, poor muscle tone, a gradual increase of involuntary jerking movements (choreiform movements), and a general decrease in brain function (cognitive deficit). | 1 in 10 | Limited* |
| Familial Mediterranean Fever - is characterized by recurrent fevers and painful inflammation of the abdomen, lungs and joints. Treatment involves taking colchicine, a drug that reduces inflammation and can prevent “attacks” from occurring. | 1 in 15 | Yes |
| Beta Thalassemia- Beta thalassemia affects one or both of the beta-globin genes. These mutations result in the impaired synthesis of the beta globin protein portion, a component of Hb, thus causing anemia. When both of the beta-globin genes are defective (Beta Thalassemia major), a severe, life-threatening anemia develops. This anemia requires regular blood transfusions and extensive ongoing medical care. | 1 in 6 | Yes |
| Factor XI deficiency (type II)- Deficiency of factor XI causes the rare Hemophilia C. It can manifest first as a bleeding disorder or as an incidental laboratory abnormality. The bleeding manifestations can present at circumcision (rarely) or much later in life during elective surgery. There is little spontaneous bleeding with Factor XI deficiency, but surgical procedures may cause excessive blood loss, and prophylaxis is required. | 1 in 30 | Yes |
| Glanzmann Thrombasthenia – is a genetic platelet disorder in which the platelet glycoprotein Iib/IIIa (GP Iib/IIIa) complex is either deficient or present but dysfunctional. Defects in the GP Iib/IIIa complex leads to defective platelet aggregation and subsequent bleeding. Treatment often requires platelet transfusion. | 1 in 40 | unknown |
| Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD) – People with G6PD are healthy. The most common early sign of G6PD is jaundice. Anemia can occur and it may be sudden if the affected person is exposed to certain foods and medications. Life expectancy for individuals affected with G-6-PD deficiency is not significantly decreased. Treatment is the avoidance of foods and medications that cause anemia including, most commonly, moth balls, fava beans and aspirin. | 1 in 4 males | Yes |
| *Testing not readily available by a commercial laboratory. Testing may only be performed at a private institution and/or may require an affected family member. Consult a genetic counselor for further assistance. | ||
*This list is provided as an educational tool and does not constitute a list of diseases for which it is essential to be screened. Diseases that are extremely rare may not be included in this list. Many of these disorders are mild, making screening in the general population unnecessary. However, if you do wish to learn more about the diseases for which you are at a higher risk to be a carrier, please print the list for the country of origin of your ancestors and take it to your doctor or a genetic counselor to discuss the diseases and availability of screening. Since many of theses diseases are rare, screening may not be available unless you have an affected individual in your family.
