Four adult hemoglobin types in one mulatto family.
The studied family showed the presence of four different types of hemoglobin. The family member who gave rise to this study (=propositus) presented Hb C and the hybrid Hb CG-phila. The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms. The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping. The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits. The hybrid Hb CG-phila is formed by the combination velocity of the subunits alpha 2G-phila beta 2; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C. The identification and molecular characterization of Hb G-phila showed the position alpha 2(68) Asn-->Lys beta 2 and Hb C showed alpha 2 beta 2(6) Glu-->Lys.
de Araújo
J T
JT
Hematology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brasil.
Bodemeier
L
L
Schmidt
B
B
Affonso
R C
RC
D000328:Adult; D044383:Black People / Q000235:genetics*; D002648:Child; D005260:Female; D006454:Hemoglobins / Q000145:classification / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal