Cigdem Karakukcu1*, Aslıhan Kiraz2, Adnan Hasimi3 and Musa Karakukcu4
1Department of Biochemistry, Education and Research Hospital, Kayseri, Turkey
2Department of Genetics, Education and Research Hospital, Kayseri, Turkey
3Department of Clinical Biochemistry, Gulhane Military Medical School, Ankara, Turkey
4Department of Pediatrics, Division of Hematology-Oncology, University of Erciyes, Kayseri, Turkey
This report concerns the detection of Abnormal Hemoglobins (Hb) during premarital screening in a family of whom the woman was pregnant before marriage. The presence of an abnormal Hb was confirmed in both instances by hemoglobin chain studies. Structural studies determined the two Hb variants to be heterozygous mutation of Hb D-Los Angeles (HBB:p. Glu121Gln) for mother and homozygous mutation of Hb G-Coushatta (HBB:p.Glu23Ala) for father. The fate of the baby was followed until the first year and an abnormal silent Hemoglobin (Hb) was also detected on her sample. In this report a very rare Hb variant homozygous Hb G Coushatta and also a heterozygous baby of the couple with Hb G Coushatta and HbD is presented.
Hb G-Coushatta; Hb D-Los Angeles; Abnormal hemoglobin
Karakukcu C, Kiraz A, Hasimi A, Karakukcu M. A Baby with Abnormal Hemoglobin of a Turkish Family with a Rare Case of Homozygote Hb G-Coushatta and Heterozygote Hb D. Ann Clin Case Rep. 2017; 2: 1353.