Interaction of the alpha2 polyadenylation signal mutation (AATAAA-->AATA--) and alpha0-thalassemia (--SEA), resulting in Hb H disease in a Thai patient.

doi:10.1081/hem-100107875

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Article

Interaction of the alpha2 polyadenylation signal mutation (AATAAA-->AATA--) and alpha0-thalassemia (--SEA), resulting in Hb H disease in a Thai patient.

Hemoglobin - 1 Nov 2001

Laosombat V, Fucharoen S, Wiriyasateinkul A

Abstract excerpt

We report a Thai boy with a compound heterozygosity for the alpha2 polyadenylation signal mutation (AATAAA-->AATA--) and alpha0-thalassemia (--SEA), who suffered from Hb H disease with more severe clinical symptoms than those usually observed with deletional Hb H disease. His Hb H level was as high as 52% of total hemoglobin. The hematologic data of this unusual case of Hb H disease was compared with those of Hb...

Topics

Child, Preschool
Hemoglobin H
Heterozygote
Humans
Male
Mutation
Pedigree
Phenotype
Polyadenylation
Polymerase Chain Reaction
Thailand
alpha-Thalassemia

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Open in PubMed

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PMID: 11791871
DOI: 10.1081/hem-100107875

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