Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an Asian Indian family in which two daughters have Hb Sun Prairie, a known unstable alpha 2-globin variant [codon 130, GCT-->CCT; alpha 2 130(H13)Ala-->Pro beta 2]. While the homozygous probands have chronic hemolysis-the same phenotype as previously reported, the heterozygous parents are asymptomatic with a thalassemia carrier phenotype, distinct from the chronic hemolytic state previously described in a heterozygote. Unlike the earlier cases in which family studies were not available, this family clearly exhibits autosomal recessive inheritance, unusual amongst variants within the same region of helix H. Globin chain biosynthesis ratios initially suggested a beta-thalassemic hemoglobinopathy-this was excluded by normal sequence analysis of both beta-globin genes. This case report further illustrates the complexity of phenotypes in the thalassemic hemoglobinopathies. It also demonstrates inversion of the alpha/beta-globin chain biosynthesis ratio, a phenomenon which had been noted in other alpha-globin variants and can be a confounding factor in the investigation of thalassemic hemoglobinopathies.
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PMID:Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies. 881 13

A 52-year-old Dutch male was referred to our laboratory for hemoglobinopathy analysis because of persistent microcytic hypochromic parameters and moderate erythrocytosis in the absence of iron deficiency. The hemoglobin (Hb) pattern was normal and breakpoint polymerase chain reaction (PCR) excluded the six common deletion defects of the alpha gene cluster. Direct sequencing revealed a GCT-->TCT transversion at codon 21 of the alpha2 gene generating an Ala-->Ser single amino acid substitution. The hematological parameters observed in the presence of this mutation are consistent with a compensated heterozygous alpha(+)-thalassemia (thal). However, the neutral mutation and the external position of the residue do not explain an association with this phenotype. Nevertheless, we cannot exclude that the mutation could induce the observed hematological abnormalities and could eventually be considered as a mutation associated with a mild alpha-thalassemic phenotype.
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PMID:Hb Zoetermeer: a new mutation on the alpha2 gene inducing an Ala-->Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype. 1765 69