alpha thalassemia


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α thal·as·se·mi·a

thalassemia due to one of two or more genes that depress (severely or moderately) synthesis of α-globin chains by the chromosome with the abnormal gene. Heterozygous state: severe type, thalassemia minor with 5-15% of Hb Bart at birth, only traces of Hb Bart in adult; mild type, 1-2% of Hb Bart at birth, not detectable in adult. Homozygous state: severe type, erythroblastosis fetalis and fetal death, only Hb Bart and Hb H present; mild type not clinically defined.
See also: hemoglobin H.
References in periodicals archive ?
In alpha thalassemia, alpha globin expression is deficient and there is a corresponding excess of beta globin chains.
KEY WORDS: Alpha thalassemia, Beta thalassemia major, Co-inheritance, Genetic analysis, a3.
Genetic studies are indicated to confirm borderline cases and to detect silent carriers of beta thalassemia, alpha thalassemia, and rare and novel variants in routine practice.
A 49-year-old African-American male with a past medical history of the alpha thalassemia trait who had a three-year history of marginal zone monocytoid B-cell non-Hodgkin lymphoma (NHL), which was diagnosed on a lymph node and bone marrow biopsies, had a longstanding splenomegaly with symptoms of fever, night sweats, fatigue, weight loss, mild abdominal pain, and early satiety.
2, and -MED mutations as common alpha thalassemia gene mutations in Iran.
SYMPTOMS: The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).
The patented test detects Alpha Thalassemia mutations and their use as predictors of blood-related disorders.
In the worst cases of Thalassemia, where a patient is diagnosed with Alpha Thalassemia Major (all four of the alpha globin genes are abnormal or missing), some patients may not survive past childhood.
Positive identification of the presence of Constant Spring is critical in that it can be a severe form of alpha thalassemia and a predictor of potential hemoglobin H disease in the future.
Beta Thalassemia is more common in Pakistan as compared to Alpha Thalassemia.