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Results for “THALASSEMIA”

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PubMed2004

Simultaneous detection of alpha-thalassemia and beta-thalassemia by oligonucleotide microarray.

In this study, we describe a reliable microarray-based assay for the simultaneous detection of alpha/beta-globin genotypes. The efficiency and specificity of this method were evaluated by blinded analysis of 1,880 samples. The assay provides unambiguous detection of complex combinations of heterozygous, compound heterozygous and homozygous alpha/beta-thalassemia genotypes.

Base Sequence↗
PubMed1978

Double heterozygosis for hemoglobin C-beta thalassemia: description of a Spanish family. Hemoglobin C-beta thalassemia in a Spanish family.

A spanish family is described with two abnormal genes: 1) hemoglobin C in heterozygosis with normal hemoglobin, introduced by the subject's mother, and 2) heterozygotic betathalassemia for which the father is a carrier. In the subject and his sister, both abnormal genes coincide with the presence of hemoglobin C and hemoglobin F, simulating homozygosis for hemoglobin C. The clinical condition shows medium intensity chronic hemolysis. In the subject's brother, mother and grandmother, simple heterozygosis of hemoglobins A-C is seen, with no apparent clinical manifestations. The father shows subjaundice with some acute hemolytic episodes. Hypotheses are discussed which might explain the presence of these hemoglobins in Spain.

Adolescent↗