Haemoglobinopathy Survey in an Eti -Turk Village

Abstract

Blood specimens were obtained from 281 inhabitants of an Eti-Turk village with a population of about 500. Starch gel (pH 8.6) and agar gel (pH 6.45) electrophoresis were performed in 279 of the specimens. Hb S was present in 105 partially interrelated persons (37.36%), three of whom had sickle-cell anaemia. Hb E was detected in 5 persons (1.79%), one of whom was a double heterozygote for Hb S and Hb E. One Hb S + α-thalassaemia and 7 Hb S with elevated Hb A’₂ combinations were found. The β-thalassaemia gene prevalence was 0.0377. Hb A₂ was found in 4 persons (1.42%), and Hb F was slightly increased in 37 (22.3%) persons with a normal haemoglobin picture. Erythrocyte G-6-PD deficiency was 10% among males.

Premarital Screening of Hemoglobinopathies: A Pilot Study in Turkey

“…In the majority of previously published studies performed in this geographic area, usually only Eti Turks were screened, and in this population the Hb S frequency was reported to be between 15 and 37% [4,7], A cord blood screening study conducted in newborns regardless of their ori gin indicated that in a mixed population in this region, the Hb S frequency was 0.3% [8]. Therefore, the Hb S frequency (4.6%) found in this study seemed to be high given the mixed population studied.…”

“…A 10-ml venous blood sample from each subject was drawn in EDTA and sent to the laboratory within 48 h, where a blood count was obtained in an elec tronic counter, Hb A; was measured by column chro matography and Hb F by an alkali denaturation tech nique [6,7], Hemoglobin electrophoresis at pH9 on a starch gel and acid citrate agar at pH6.4 was undertak en for all samples [7], Genetic counselling was given by one of the authors (E.Y.) to the prospective families in which both part ners were carriers.…”

Prevention of Hemoglobinopathies in Turkey

“…The prevalence of carriers ranges from 3% to 44% in some villages and towns in Hatay. [15][16][17] After the first sickle cell patient was diagnosed in 1946, several population-screening studies were carried out by different study groups. [12][13][14][15][16][17][18] In 1983, the first prenatal diagnosis center was established at Hacettepe University in Ankara.…”

Hb E and Hb E-Like Variants in Individuals from Turkey

“…t o be present i n 2,3,4) b u t data from s t r u c t u r a l analyses have n o t been published. The i n c i d e n t a l observation o f t h e r e l a t e d 6 c h a i n abnormality Hb E-Saskatoon o r 012l32 22Glu + Lys made us (re)examine t h e hemoglobins from a few Turkish i n d i v i d u a l s w i t h a heterozygosity f o r a Hb E -l i k e v a r i a n t .…”