Hereditary Inclusion Body Myopathy (HIBM)
This hereditary muscle disorder, known as HIBM, is characterized by progressive muscle weakness of the arms and legs.
Approximately 1 in 15
Iranian Jews are carriers, and 1 in 225 couples are at-risk of having a child with this condition. Symptoms usually begin to appear in the 20s and 30s and present themselves with difficulty walking. Most individuals with HIBM become severely debilitated and lose
their ability to walk about a decade after onset. While genetic screening is encouraged prior to conception, genetic counseling and prenatal diagnosis in early pregnancy are available to at-risk couples when needed.
Wolman disease is an inherited fat storage disorder of chromosome 10
caused by deficiency of the enzyme lysosomal acid lipase in the body.
Without the enzyme, fats, including cholesterol, build up in the body
tissues and become toxic leading to death at a very young age. (More)
Usher Syndrome (Type 2)
Usher syndrome type II is characterized by hearing loss from birth and
progressive vision loss that begins in adolescence or adulthood. The
hearing loss associated with this form of Usher syndrome ranges from
mild to severe and mainly affects high tones.
Pseudocholinesterase deficiency (anesthesia sensitivity):
Pseudocholinesterase deficiency is an autosomal recessive condition common within the Persian and Iraqi
Jewish populations. One in 10 Iranian Jews are carriers for anesthesia sensitivity. In one in
100 couples, both partners will be carriers, which means their children
would have a 25 percent chance of having the disorder. When the
condition is known to be present, complications can be avoided by
selecting appropriate anesthetic agents.
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency:
G6PD deficiency is an inherited condition in which the body doesn't have
enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which
helps red blood cells (RBCs) function normally. This deficiency can
cause hemolytic anemia,
usually after exposure to certain medications, foods, or even
Thalassemia describes a group of inherited disorders characterized by reduced or absent amounts of hemoglobin, the oxygen-carrying protein inside the red blood cells.
There are two basic groups of thalassemia disorders: alpha thalassemia and beta thalassemia.
These conditions cause varying degrees of anemia, which can range from insignificant to life threatening.
Congenital Hypoaldosteronism (salt-losing disorder):
One in 30 Iranian Jews are carriers, and one in 900 Iranian Jewish couples are at risk of having a child with this condition, a salt-losing disorder. The more severe forms can result in critical dehydration and shock in newborns. In less severe cases, children with the condition have poor weight gain, short stature, blood pressure irregularity, weakness, dizziness and salt cravings. If the risk is
identified before birth, the fetus or newborn can be tested and treated early. Normal life span, growth, and development are expected for affected individuals treated early with a simple, inexpensive on-going therapy.
Polyglandular deficiency (multiple hormone deficiency):
One in 50 Iranian Jews are carriers for this multiple hormone deficiency. The condition can be characterized by many symptoms, depending upon which glands are affected.
While the symptoms may include skin infections, fatigue, muscle weakness, loss of appetite, hair loss and infertility, the disorder is easily treated with hormone replacement therapy.
Familial Mediterranean Fever (FMF)
Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints.
These episodes are often accompanied by fever and sometimes a rash.
The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life.
Without treatment to help prevent attacks and complications, a buildup of certain protein deposits (amyloidosis) in the body's organs and tissues may occur, which can lead to kidney failure.
It occurs most commonly in untreated Jews of Northern African and Iraqi
ethnicity and in patients of Turkish heritage.
Glycogen Storage Disease (Type III)
Glycogen is a carbohydrate that serves as one of the primary fuel reserves
for the body’s energy needs. Stores of glycogen power the body during
times of fasting and exercise. Glycogen storage disease type III (GSD
III) is caused by an enzyme deficiency that prevents liver and/or muscle
tissue from completely breaking down the stored glycogen into glucose,
which the body metabolizes. This progressive buildup of glycogen can
cause muscle wasting and organ failure. In the Sephardic community, GSD
III is primarily found among Jews of North African descent.