Ankara Üniversitesi Tıp Fakültesi Mecmuası

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Ankara University

Pediatric Genetic Illnesses

Çocuk Genetik Hastalıkları

Hemoglobin A2 (B2) Anomaly in a Turkish Family

Bir Türk Ailesinde Hemoglobin A2 (B2) Anomalisi

Çavdar

Ayhan

ANKARA MEDİPOL ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK SAĞLIĞI VE HASTALIKLARI ANABİLİM DALI

10 31 1972

25 5 1023 1029 09 01 1972 10 31 1972

1947

Ankara Üniversitesi Tıp Fakültesi Mecmuası

Hemoglobin A2 (B2) abnonmality has been presented in a Turkish family which was found during a thalassemia survey 1000 blood samples form healthy individuals were subjected to starch - block electrophoresis. A young women (propositus) from Diyarbakır was discovered to have an abnormal minor hemoglobin component, namely Hemoglobin A', or B, The family study revealed that her father was also heterozygous for this abnormality. They had no clinicai or hematological abnormalities. Electrophoretic and genetic aspects of hemoglobin A2 (B2) were discussed. The incidence of this abnormal minor hemoglobin appeared to be 0.1 in Turkish population.

Thalassemia taraması esnasında bulunan A2 (B2) anomalisi takdim edildi. 1000'den fazla sağlam Türk'de yapılan nişasta blok elektroforezi esnasında bu anomali bulundu. Propositus Diyarbakır'lı genç bir kadındı. Ailesinin tetkiki babasının da aynı anomali için heterozigot olduğunu gösterdi. Ailede klinik veya hemotolojik ayrıca bir belirti tespit edilemedi. A2, Hb'ninin genetik ve elektroforetik özellikleri münakaşa edildi. Bu küçük Hb anomalisinin insidansı Türk popülasyonunda % 0.1 olarak dikkati çekti.

Hemoglobin A2 HbB2 Talasemi

1 — AKSOY, M., AND ERDEM, Ş. (1966) Hemoglobin A', abnormality associated with thalassemia minor in a Greek women. Syudy of a famoly. 1Isrel Journal ot Madical Sciences, 2,310.

2 — BANNERMAN, R.M. (1961) Thalassemia, A survey of some âspecis, p. 54 Grune and Stratton, London.

3 — BETKE, K. (1964) Physiology and pathologie des globins. Folio Haematologica, 9,217,

4 — ENG, L.L., GIOK, P.O.H., AND MOSBERGER, R.J. (1968) Haptoglobins transferrins and hemoglobin B,in İndonesions. American Journal of Genetics, 20,47.

5 — HORTON, B., PAYNE, R.A., BRIDGES, M.T., AND HUISMAN, T.H.J. (1961) Studies on an abnormal minor hemoglobin component (Hb.B.). Clinical Chimica Acta, 6,246.

6 — HUISMAN, T.H.JI., PUNT, K., AND SCHOOD, J.D.G. (1961) Thalassemia minor associated with hemoglobin - B, heterozygosity, a family report.Blood, 17,747.

7 — JONXIS, J.H.A, (1963) Hemoglobinopathies. Annual Revlew of Medicirs, 14,297.

8 — KUNKEL, H.G., AND VALLENTUS, G, (1955) New hemoglobin in normal adult. Science, 122, 288,

9 — LEHMAN, H. AND HUNTSMAN, R.G. (1966) The minor hemoglobin. Manis hemoglohin. p. 126 North - Holland Pub. Com.

10 — OKÇUOĞLU, A., MINNICH, V., ARCASOY, A. (1956) A further example of thalassemlia hemoglohin E disease in Turkey. Acta Haematologica, 34, 354.

11 — RANNEY, H.M., JACCBS, A.S. BRADLEY, T.B. ANDA CORDVA, F.A. (1963) A New variant of Hb A, andits segratotion in a family with Hb 5. Nature, 197, 164.

12 — SMITHIES, O. (1959) An improved procedure for starch gel electrophoresis, Biochemical Journal, Ti, 585.

13 — SINGER, K., CHERNOFF, A.I, AND SINGER, J. (1951) Studies on abnormal hemoglobins, 1. Alkali denaturation. Blood, 6, 913.

14 — WEATHERALL, D.J. (1966) The thalassemia syndromes, P, 8 Blackwell Sclentific Pup., Oxford.