Promil JAIN, Monika GUPTA, Shivani DUA, Nisha MARWAH, Meenu GILL, Rajeev SEN

Hemoglobinopati Prevelansı- Bir Üçüncü Basamak Merkez Deneyimi

Amaç: Haryana şehrindeki talasemi ve diğer hemoglobinopatilerin prevelansını ortaya çıkarmak ve bu hastalıkların hızlı ve doğru tanısında yüksek performans likid kromatografi (HPLC)’nin rolünü araştırmak. Yöntemler: Bu çalışma çok dilimli random örnekleme metoduyla toplam 4275 hastanın HPLC cihazıyla varyantlarının gösterilmesi vasıtasıyla Temmuz-Ekim 2010 tarihleri arasında Pt. B. D. Sharma, PGIMS, Rohtak’da gerçekleştirilmiştir. Bulgular: Toplam 4275 vakanın 3862’si (%90,3) normal bir hemoglobin paterni gösterirken, 413 vakada (%9,7) anormal hemoglobin fraksiyonları HPLC ile saptandı. Anormal vakaların 318’i (%7,4) beta (β) talasemi idi. Vakaların 19’u β-talasemi major ve 24 ‘ü β-talasemi intermedia olarak tespit edildi. Diğer anormal durumların altısı HbE’li, ikisi HbS’li, ikisi HbF’li, 11’I HbD’li, biri HbC’li ve iki vakanın her biri Hb E/ β-taalasemi ve Hb S/ β-talasemi heterozigot idi. Sonuç: Bu bölgede yüksek hemoglobinopati prevelansı saptandı ve HPLC çeşitli hemoglobinopatilerin erken saptanmasında hızlı ve kesin bir yöntemdir.

Prevalence of Various Hemoglobinopathies-An Experience from Tertiary Care Centre

Objective: To find out the prevalence of thalassemias and various other hemoglobinopathies in state of Haryana and toassess the role of High performance liquid chromatography (HPLC) for accurate and quick diagnosis of varioushemoglobin disorders.Methods: This study was conducted in Pt. B. D. Sharma, PGIMS, Rohtak from July 2010 to October 2016 forhemoglobin variant screening by HPLC of total of 4275 patients, selected through multistage random samplingtechnique.Results: Among 4275 total cases surveyed, normal hemoglobin pattern was observed in 3862 (90.3%) and abnormalhemoglobin fractions on HPLC were detected in 413 (9.7%). Βeta (β) thalassemia trait was predominant abnormalityfound in a total of 318 cases (7.4%). There were 19 cases of β-thalassemia major and 24 of β-thalassemia intermedia.Other abnormal patterns found were HbE (trait in 11 and HbE disease in 6 cases), Hb S (2 cases each of sickle celldisease and sickle cell trait), 2 cases of high Hb F (1 case each of heterozygous and homozygous HPFH), 11 cases of HbD Punjab along with 2 cases of Hb D Iran, 1 case of Hb C and 2 cases each of double heterozygotes for Hb E/ βthalassemia and Hb S/ β-thalassemia.Conclusion: There is high prevalence of hemoglobinopathies in this region and HPLC forms a rapid and accurate toolin early detection and management of various hemoglobinopathies.

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