beta Thalassemia

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beta Thalassemia
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Specialty scores for beta Thalassemia

Overview

Source: In partnership with Genetic and Rare Diseases Information Center, funded by the National Center for Advancing Translational Sciences, and the National Human Genome Research Institute https://rarediseases.info.nih.gov/gard.

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Beta-thalassemia

overview Question

What is beta-thalassemia?

Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Severe beta-thalassemia is called “thalassemia major” or “Cooley’s anemia.” Thalassemia intermedia is a less severe form. Beta-thalassemia is caused by mutations in the HBB gene and is usually inherited in an autosomal recessive manner. People who have only one HBB gene mutation may have no symptoms or develop mild symptoms, and are said to have thalassemia minor. Treatment depends on the severity in each person and may include transfusions, folic acid supplementation, iron chelation, and/or bone marrow transplantation (the only definitive cure).

Date Modified: 2015-07-29T00:00:00

basic Questions

How is beta-thalassemia inherited?

Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not be a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have 'beta-thalassemia minor' or 'beta-thalassemia trait.' 

In a small percentage of families, the condition is inherited in an autosomal dominant manner. In these cases, one mutated copy of the gene in each cell is enough to cause the signs and symptoms of beta-thalassemia.

Date Modified: 2015-07-29T00:00:00

Presentation(s)

Abnormality of the heme biosynthetic pathway

Hypersplenism

Pallor

Splenomegaly

Abnormality of iron homeostasis

Abnormality of temperature regulation

Abnormality of the genital system

Abnormality of the teeth

Behavioral abnormality

Biliary tract abnormality

Depressed nasal bridge

Feeding difficulties in infancy

Genu valgum

Hepatomegaly

Malabsorption

Malar prominence

Muscle weakness

Paresthesia

Reduced bone mineral density

Respiratory insufficiency

Upslanted palpebral fissure

Abnormality of color vision

Abnormality of the thorax

Anterior hypopituitarism

Arthralgia

Bone marrow hypocellularity

Cataract

Cirrhosis

Diabetes mellitus

Elevated hepatic transaminases

Hearing impairment

Hypertrophic cardiomyopathy

Hypoparathyroidism

Hypothyroidism

Neoplasm of the liver

Nyctalopia

Primary adrenal insufficiency

Pulmonary hypertension

Skeletal dysplasia

Skin ulcer

Sudden cardiac death

Thrombocytopenia

Thrombophlebitis

Visual impairment

Hypochromic microcytic anemia

Reduced beta/alpha synthesis ratio