Alpha-globin gene deletions associated with alpha A and alpha G Philadelphia in an Algerian family that includes two Hb G homozygotes.
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 alpha-globin chain synthesis. Hb H and Heinz bodies were absent. DNA mapping revealed the presence of a 3.7 kb deletion resulting from the rightward type of recombination event between alpha 2 and alpha 1 genes on both the alpha A/ and the alpha G/ chromosomes. Such data indicate that the -alpha A/ and -alpha G/ haplotypes are involved and suggest that the -alpha G/ haplotype, which is very rare in Algeria, has an African Black origin. In subjects with genotype (-alpha A/-alpha G) or (-alpha G/-alpha G), the output of the remaining alpha genes is sufficiently high to avoid the appearance of Hb H. This situation contrasts with that reported in an Algerian patient, who had a (-alpha A/-alpha A) genotype but who was producing Hb H (Whitelaw et al. 1980). The data collected from this family suggest that the -alpha A/ haplotypes are heterogeneous in Algerians.
D000462:Algeria; D000510:Alpha-Globulins / Q000032:analysis / Q000235:genetics*; D000595:Amino Acid Sequence; D001345:Autoradiography; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005260:Female; D006447:Hemoglobin H / Q000032:analysis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D010375:Pedigree
D000510:Alpha-Globulins; D006455:Hemoglobins, Abnormal; C031679:hemoglobin G Philadelphia; D006447:Hemoglobin H; D004262:DNA Restriction Enzymes