thalassemia

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Synonyms for thalassemia

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Correlation between study Parameters in alpha thalassemia patients (No.=22) Ferritin ng/ml Hb g/dl WBC uL PLT uL IL_23 r -0.246 -0.191 0.009 -0.322 pg/mL p 0.466 0.573 0.979 0.334 TGF r -0.016 -0.126 0.298 0.324 pg/mL p 0.962 0.712 0.373 0.331 Correlation between study Parameters in beta thalassemia patients (No.=48) IL_23 r -0.314 0.067 0.466 -0.062 pg/mL p 0.22 0.798 0.06 0.812 TGf r -0.262 -0.027 0.013 -0.123 pg/mL p 0.217 0.9 0.952 0.568
Subsequent beta globin sequencing revealed a heterozygous beta-plus thalassemia mutation, while analysis for alpha globin deletions revealed a heterozygous Southeast Asian (SEA) two-gene deletion, consistent with--/[alpha][alpha] alpha thalassemia minor.
A total of 156 samples were analyzed for alpha thalassemia mutations.
Several studies have additionally attempted to investigate associations between elevated CBFV and distinct SCD genotypes, including fetal hemoglobin levels; coinheritance of alpha thalassemia and chronic anemia; leukocyte count; and polymorphisms of methylenetetrahydrofolate reductase (MTHFR) 677C>T (rs1801133), Factor V Leiden (FV) 1691G>A (rs6025), vascular cell adhesion molecule (VCAM) 833T>C (rs1041163), and VCAM 1238G>C, although much of this data remains controversial [11-16].
In patients with B thalassemia/hemoglobin E disease and alpha thalassemia, cerebral thrombosis was detected [12,13].
In Southeast Asia, gene frequencies of alpha thalassemia reach 30-40% and beta thalassemia gene frequencies varies between 1-9%3.
Important hemoglobinopathies in Saudi Arabia and other middle east countries are alpha thalassemia, beta thalassemia and sickle cell anemia.
The interaction between hemoglobin S and alpha thalassemia has been described as one of the factors responsible for the improvement in the clinical conditions of homozygous hemoglobin S (sickle-cell anemia), with a decrease in sickle-cell crisis events (TOME-ALVES et al., 2000).
There are two main types of thalassemia; alpha thalassemia occurs when one or more genes related to the alpha globin protein are missing or mutated.
Sickle cell disorders are seen commonly in Sub-Saharan Africa but also occur in Mediterranean, India and Arabian Pninsula.7 Alpha Thalassemia is a hemoglobin defect prevalent insouthern China and South East Asia.
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.
In this article, we present a case of LCA in a patient with non-Hodgkin B-cell lymphoma and alpha thalassemia trait, which to our knowledge, is the first report of the coexistence of LCA and thalassemia and only the second case of LCA and marginal zone non-Hodgkin B-cell lymphoma.
Hydrops fetalis caused by homozygous alpha thalassemia and Rh antigen alloimmunization: report of a survivor and literature review.
These cell lines include one disease free pluripotent cell line and 24 others with individual mutations that give rise to several severe diseases such as cancer (breast cancer, Wilm's tumor and Von Hippel-Lindau syndrome), Huntington's disease, muscular dystrophy (including CMT, FSHD and Myotonic) and cystic fibrosis as well as some rarer genetic diseases such as Trisomy 5, macular dystrophy, incontinentia pigmenti, juvenile retinoschisis, alpha thalassemia and autosomal dominant torsion dystonia.
These cell lines include one disease free pluripotent cell line and 24 others widi individual mutations that give rise to several severe diseases such as cancer (breast cancer, Wilm's tumor and Von Hippel-Lindau syndrome), Huntington's disease, muscular dystrophy (including CMT, FSHD and Myotonic) and cystic fibrosis as well as some rarer genetic diseases such as Trisomy 5, macular dystrophy, incontinentia pigmenti, juvenile retinoschisis, alpha thalassemia and autosomal dominant torsion dystonia.