thalassemia

(redirected from Alpha Thalassemia)
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Synonyms for thalassemia

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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.
Molecular studies in different regions of Brazil show an approximately 25% prevalence of alpha thalassemia in Brazilian populations (LERMEN, 2007).
frequency of alpha thalassemia in Pakistani population as screened through cation exchange chromatography.
It has been reported that one can detect HbH form of alpha thalassemia on HPLC by visual analysis of the chromatogram plot as it produces a sharp peak before the start of integration 29].
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.
Alpha thalassemia is a reduction or absence of alpha chains .
Further investigation characterized the same mutation for mother and brother of the proband, whilst mother was also a carrier of an alpha thalassemia gene mutation (-a3.
The prevalence of sickle cell anemia, beta-thalassemia major, beta thalassemia, alpha thalassemia, alpha thalassemia trait was found 0.
It is estimated, however, that 15% of African Americans (the US population with the highest incidence of any form of thalassemia) are affected by alpha thalassemia.
Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
Neither Hb Rambam (also known as Hb J-Cambridge) a Gly69Asp substitution (28), nor Hb Kenitra, a beta 69 Gly>Arg change associated with an alpha thalassemia show abnormal hematological parameters attributed to the [beta]69 substitution (29).