alpha-thalassemia


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Related to alpha-thalassemia: Beta-thalassemia, hemoglobin H disease

thalassemia

 [thal″ah-se´me-ah]
a heterogeneous group of hereditary hemolytic anemias marked by a decreased rate of synthesis of one or more hemoglobin polypeptide chains, classified according to the chain involved (α, β, δ); the two major categories are α- and β-thalassemia.
α-thalassemia (alpha-thalassemia) that caused by diminished synthesis of alpha chains of hemoglobin. The homozygous form is incompatible with life, the stillborn infant displaying severe hydrops fetalis. The heterozygous form may be asymptomatic or marked by mild anemia.
β-thalassemia (beta-thalassemia) that caused by diminished synthesis of beta chains of hemoglobin. The homozygous form is called t. major and the heterozygous form is called t. minor.
thalassemia ma´jor the homozygous form of β-thalassemia, in which hemoglobin A is completely absent; it appears in the newborn period and is marked by hemolytic, hypochromic, microcytic anemia; hepatosplenomegaly; skeletal deformation; mongoloid facies; and cardiac enlargement.
thalassemia mi´nor the heterozygous form of β-thalassemia; it is usually asymptomatic, but there may be mild anemia.
sickle cell–thalassemia a hereditary anemia involving simultaneous heterozygosity for hemoglobin S and thalassemia.

alpha-thalassemia

Etymology: Gk, thalassa, sea + haema, blood
an anemia caused by a decreased rate of synthesis of the alpha chains of hemoglobin. The homozygous form is incompatible with life, the stillborn infant displaying severe hydrops fetalis; the heterozygous form may be asymptomatic or marked by mild anemia.

α-thalassemia

Hemoglobin Barts Hematology An inherited condition caused by a defect in the synthesis of the Hb α chain; Hb Barts hemoglobinopathy is characterized by the presence of 4 gamma chains; it is more common in southeast Asians; the most severe form of alpha thalassemia causes stillbirth due to hydrops fetalis Heredity Parents are carriers–heterozygotes; one in 4 children is homozygous for the mutation and thus has full-blown disease Clinical Pallor, fatiguability, FTT, fever, infections, diarrhea Management Transfusions

Alpha-thalassemia

An inherited disorder that interferes with the normal production of hemoglobin.
References in periodicals archive ?
Intrauterine therapy for homozygous alpha-thalassemia.
Rubin LP Alpha-thalassemia major: antenatal diagnosis and management.
According to written convention, the alpha-thalassemia syndromes can be expressed as [[alpha].
Alpha-thalassemia syndromes Number of alpha-globin genes Clinical Hemoglobin Syndrome affected features pattern Silent carrier 1 No or minimal 1%-2% Hb Barts ([[alpha].
Canatan D, Oguz N, Guvendik I, Yildirim S: The Incidence of Alpha-Thalassemia in Antalya-Turkey.
In all, 8 of the 83 participants were diagnosed with alpha-thalassemia an incidence rate of 9.
Kattamis AC, Camaschella C, Sivera P, Surrey S, Fortina P Human alpha-thalassemia syndromes: detection of molecular defects.
Detection of alpha-thalassemia in China by using multiplex ligation-dependent probe amplification.
A fast hemoglobin variant on newborn screening is associated with alpha-thalassemia trait.