thalassemia major


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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.

thal·as·se·mi·a ma·jor

[MIM*141800-142310 passim]
the syndrome of severe anemia resulting from the homozygous state of one of the thalassemia genes or one of the hemoglobin Lepore genes with onset, in infancy or childhood, of pallor, icterus, weakness, splenomegaly, cardiac enlargement, thinning of inner and outer tables of skull, microcytic hypochromic anemia with poikilocytosis, anisocytosis, stippled cells, target cells, and nucleated erythrocytes; types of hemoglobin are variable and depend on the gene involved.
Synonym(s): Cooley anemia

thal·as·se·mi·a ma·jor

(thal'ă-sē'mē-ă mā'jŏr)
The syndrome of severe anemia resulting from the homozygous state of one of the thalassemia genes or one of the hemoglobin Lepore genes, with onset, in infancy or childhood, of pallor, icterus, weakness, splenomegaly, cardiac enlargement, thinning of inner and outer tables of the skull, and microcytic hypochromic anemia with poikilocytosis, anisocytosis, stippled cells, target cells, and nucleated erythrocytes; types of hemoglobin are variable and depend on the gene involved.
Synonym(s): Cooley anemia, thalassaemia major.

Cooley,

Thomas B., U.S. pediatrician, 1871-1945.
Cooley anemia - the syndrome of severe anemia with multiple organ disorders. Synonym(s): thalassemia major
Cooley trait - Synonym(s): thalassemia minor

thal·as·se·mi·a ma·jor

(thal'ă-sē'mē-ă mā'jŏr) [MIM*141800142310 passim, MIM*141800, MIM*141800-142310 passim]
Syndrome of severe anemia resulting from homozygous state of one of the thalassemia genes or one of the hemoglobin Lepore genes with onset, in infancy or childhood, of pallor, icterus, weakness, splenomegaly, cardiac enlargement, thinning of inner and outer tables of skull, and other findings.
Synonym(s): Cooley anemia, thalassaemia major.
References in periodicals archive ?
Jayantha Boolasooriya, father of Suwini Umeda Shreemali Balasooriya, who is the Secretary of The Thalassemia Society as well said, "Back home thalassemia major is considered as an incurable disease especially for children who do not have related donors.
Prospects and future of conservative management of beta thalassemia major in a developing country.
A Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine.
KEY WORDS: Alpha thalassemia, Beta thalassemia major, Co-inheritance, Genetic analysis, a3.
In this case the first factor (p2 + Fpq) measures the number of thalassemia major patients, whereas the last component i.
A total of 300 patients with confirmed diagnosis of beta thalassemia major reported to Pediatric OPD during the study period.
Age at First Presentation with Thalassemia Major Age in Months No.
Beta Thalassemia Major in a Developing Country: Epidemiological,'Clinical and Evolutionary Aspects.
People suffering from thalassemia major require regular blood transfusions to survive and manage to reach quite prolonged life expectancy by virtue of modern therapy [2].
Objective : The project aims to increase the chances of survival and improve quality of life of patients with thalassemia major and Onco-Hematological diseases.