Hemoglobin D ve Hb D’nin β-Talasemi ve Hb S ile Birlikte Kalıtımı

Öz

Amaç: Hb D-Punjab (D-Los Angeles olarak da bilinir), çekinik olarak kalıtılan bir hemoglobin çeşididir. Dünya çapında en yaygın hemoglobin varyantlarından biridir. Bu çalışmada homozigot ve heterozigot Hb D hastalarımız ve Hb D ile diğer hemoglobinopatilerin bileşik heterozigotluğu olan hastalarımızın hematolojik özelliklerini klinik ve laboratuvar bulguları açısından değerlendirmeyi amaçladık. Yöntemler: Bu çalışmada, Hb D-Punjab'lı vakalar hem heterozigot hem de homozigot durumlarda ve ayrıca Hb S veya β-talasemi ile birlikte kalıtımda tanımlanmıştır. 18 olgunun (Hb D/D (n=2), Hb D/β-talasemi (n=3) ve Hb S/D (n=3) ve Hb D (n=10)) klinik ve laboratuvar özelliklerini sunduk. Bulgular: Çalışma sonucunda Hb D'nin hem heterozigot hem de homozigot formda asemptomatik olduğu gözlendi. Hb D/β talasemi olguları hafif mikrositik ve hipokromik anemi gösterdi ancak klinik olarak normaldi. Hb S/D bileşik heterozigotluğu, orta derecede hemolitik anemi gösterdi, ancak orak hücre hastaları gibi ağrılı krizlerle şiddetli bir klinik tablo gösterdi. Sonuç: Homozigot durumda bile asemptomatik olan Hemoglobin D-Punjab, diğer hemoglobinopatilerle birlikte kalıtıldığında hafiften şiddetliye kadar çeşitli klinik tablolara neden olabilir.

Anahtar Kelimeler

• hemoglobin D
• hemoglobin S
• beta talasemi
• hemoglobinopati

Hemoglobin D and Coinheritance with Hb S, β-thalassemia

Abstract

Objective: Hb D-Punjab (also known as D-Los Angeles) is a recessively inherited variant of hemoglobin. It is one of the most common hemoglobin variants worldwide. In this study, we aimed to evaluate the hematological features of our homozygous and heterozygous Hb D patients and patients with compound heterozygosity for Hb D and other hemoglobinopathies in terms of clinical and laboratory findings. Methods: In this study, cases with Hb D-Punjab have been identified in both the heterozygous and homozygous states, as well as coinheritance with Hb S or β-thalassemia. We presented the clinical and laboratory characteristics of 18 cases (Hb D/D (n=2), Hb D/β-thalassemia (n=3), and Hb S/D (n=3) and Hb D traits (n=10)). Results: As a result of the study, it was observed that Hb D was asymptomatic in both heterozygous and homozygous forms. Hb D/β thalassemia cases showed mild microcytic and hypochromic anemia, but they were clinically normal. Compound heterozygosity for Hb S/D showed moderate hemolytic anemia, but a severe clinical picture with painful crises, just like sickle cell patients. Conclusion: Hemoglobin D-Punjab, which is asymptomatic even in homozygous conditions, can cause a variety of clinical pictures from mild to severe when inherited in combination with other hemoglobinopathies.

Keywords

• hemoglobin D
• hemoglobin S
• Beta thalassemia
• hemoglobinopathy

Kaynakça

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