Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family.
Hb Setif is a relatively rare, mildly unstable alpha2-globin hemoglobin (Hb) variant first described in an Algerian family, and subsequently in various populations of the Mediterranean region and the Middle East. Hb Agrinio is a highly unstable variant, classified as a nondeletional alpha-thalassemia (alpha-thal) mutation, which, to date, has only been described in Greece and Cyprus. We report here the clinical and hematological findings in a case of Greek origin, who, following DNA analysis, was characterized with the unusual interaction of the Hb Setif alpha2-globin gene variant at codon 94 variant, in trans to Hb Agrinio, an alpha2-globin gene variant at codon 29. The compound heterozygote proband had only mild anemia with no transfusion requirements and with normal growth and development. We also report the laboratory findings in members of his family, highlighting diagnostic difficulties in the absence of molecular analysis.
Douna
Varvara
V
Hematology Laboratory, P. and A. Kyriakou Children's Hospital, Athens, Greece.
Papassotiriou
Ioannis
I
Stamoulakatou
Alexandra
A
Metaxotou-Mavrommati
Anna
A
Kanavakis
Emmanuel
E
Traeger-Synodinos
Joanne
J
D000328:Adult; D019943:Amino Acid Substitution; D000740:Anemia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D001224:Aspartic Acid / Q000737:chemistry / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006115:Greece; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007930:Leucine / Q000737:chemistry / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011392:Proline / Q000737:chemistry / Q000235:genetics; D014443:Tyrosine / Q000737:chemistry / Q000235:genetics; D055542:alpha-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C097403:hemoglobin A(2)-Agrinio; D001224:Aspartic Acid; C040665:Hemoglobin Setif; D014443:Tyrosine; D011392:Proline; D007930:Leucine