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 ?
Screening and identifying of erythrocyte alloantibodies in patients with Thalassemia major referred to Ahvaz Shafa hospital.
Median number of blood products transfused according to disease groups Disease groups (n) Erythrocyte suspension Platelet suspension Median (min-max) Median (min-max) Acute leukemia (69) 7 (1-39) * 5 (0-40) Thalassemia major (64) * 60 (13-119) 0 (0-0) Aplastic anemia (33) 60 (1-79) * 40 (0-81) Factor deficiency (33) 0 (0-16) 0 (0-2) Other anemia (21) 16 (0-119) 0 (0-0) Total (220) 15 (0-119) 0 (0-81) Disease groups (n) Fresh frozen plasma Median (min-max) Acute leukemia (69) 1 (0-21) Thalassemia major (64) 0 (0-0) Aplastic anemia (33) 0 (0-3) Factor deficiency (33) * 17 (3-73) Other anemia (21) 0 (0-0) Total (220) 0 (0-73) * The p values were detected <0.
Insulin resistance and hyperinsulinemia in patients with thalassemia major treated by hypertransfusion.
Patients who are homozygous for thalassemia major are at risk for serious Y enterocolitica infections.
The only known cure for thalassemia major is a stem cell transplant.
Thalassemia Major is an inherited blood disorder which leads to ineffective erythropoiesis, bone marrow expansion, and skeletal deformity.
National Marrow Donor Program sites cord blood as treatment for multiple myeloma, severe aplastic anaemia, beta thalassemia major, SCID and other inherited immune system disorders, and leukaemias and lymphomas.
They requested the masses to donate blood to thalassemia major patients to save their lives.
7] mutations with homozygous [beta]-thalassemia may have converted a transfusion-dependent thalassemia major to non transfusion-dependent thalassemia intermedia.