ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary An Algerian family with a high degree of consanguinity and including two homozygotes for Hb-G Philadelphia is presented. Whether homozygotes or heterozygotes, all subjects displayed microcytosis (with various degrees of poikilocytosis) and a moderately depressed α-globin chain synthesis. Hb H and Heinz bodies were absent. DNA mapping revealed the presence of 3.7 kb deletion resulting from the rightward type of recombination event between α2 and α1 genes on both the αA/and the αG chromosomes. Such data indicate that the −αA/ and −αG/ haplotypes are involved and suggest that the −αG/ haplotype, which is very rare in Algeria, has an African Black origin. In subjects with genotype (−αA/−αG/) or (−αG/−αG/), the output of the remaining α genes is sufficiently high to avoid the appearance of Hb H. This situation contrasts with that reported in an Algerian patient, who had a (−αA/−αA/) genotype but who was producing Hb H (Whitelaw et al. 1980). The data collected from this family suggest that the −αA/ haplotypes are heterogeneous in Algerians.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00286523
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