Haemoglobin D and D thalassaemia. A family report, comprising 18 members

Haemoglobin D and D thalassaemia. A family report, comprising 18 members

On the occasion of a double heterozygote case of D haemoglobinopathy/beta-thalassaemia (D thalassaemia) from Epirus (Greece), a family study was performed. It comprised 18 members, belonging to 3 generations, and revealed the presence of an additional D thalassaemia case, 4 D haemoglobinopathy heter...

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Bibliographic Details
Published in:Acta haematologica Vol. 54; no. 3; p. 172
Main Authors: Tsistrakis, G A, Scampardonis, G J, Clonizakis, J P, Concouris, L L
Format: Journal Article
Language:English
Published: Switzerland 1975
Subjects:
Adult
Aged
Blood Protein Electrophoresis
Child
Child, Preschool
Erythrocyte Count
Female
Greece
Hematocrit
Hemoglobins, Abnormal - analysis
Heterozygote
Homozygote
Humans
Infant
Male
Middle Aged
Pedigree
Phenotype
Thalassemia - blood
Thalassemia - genetics
Greece
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Summary:On the occasion of a double heterozygote case of D haemoglobinopathy/beta-thalassaemia (D thalassaemia) from Epirus (Greece), a family study was performed. It comprised 18 members, belonging to 3 generations, and revealed the presence of an additional D thalassaemia case, 4 D haemoglobinopathy heterozygotes, 5 beta-thalassaemia heterozygotes and 7 normal persons. The D thalassaemia cases were initially considered as Hb D homozygotes, according to their electrophoretic phenotype; the family study, however, showed the true nature of their stigmata. These patients presented with mild jaundice, splenomegaly and moderate anaemia, while the Hb D heterozygotes was asymptomatic.
ISSN:0001-5792
DOI:10.1159/000208069