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 ?
This cross-sectional study was done on 50 children of beta thalassemia major, who received regular blood transfusion therapy for at least two years and were selected with a ferritin level is greater than 1000 [micro]gm/dl.
Bone mineral density in thalassemia major patients from antalya, Turkey.
A cross sectional survey was conducted between January to May 2017 in three registered centers for blood transfusion for children suffering from thalassemia major. These centers included one government owned, Sir Ganga Ram Hospital, Lahore and two private owned, Fatimid foundation and Sundas Foundation.
The frequency of iron overload related complications in patients of thalassemia major in our setting was different from their incidence reported internationally.
Vascular endothelial growth factor and pulmonary hypertension in children with beta thalassemia major. J Pediatr (Rio J) 2018.
A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients.
People with thalassemia minor carry the trait for thalaessemia major, and can transmit it to their children, but children only suffer from thalassemia major if they inherit it from both parents.
Adil A, et al from Karachi, Pakistan reported hypocalcemia in thalassemia major patients of 18 out of 51 (35.3%) cases.
Christou et al., "Improved survival in thalassemia major patients on switching from desferrioxamine to combined chelation therapy with desferrioxamine and deferiprone," Haematologica, vol.
Carnelli, V Caruso et al., "Thromboembolic events in beta thalassemia major: an Italian multicenter study," Acta Haematologica, vol.
Side effects of Deferasirox Iron Chelation in Patients with Beta Thalassemia Major or Intermedia.
asymptomatic and affected can survive without any treatment, thalassemia major i.e.