Jha Aditya N, Mishra Hrishikesh, Verma Henu K, Pandey Isha, Lakkakula Bhaskar V K S
a Sickle Cell Institute Chhattisgarh (SCIC), Pandit Jawaharlal Nehru Memorial Medical College Campus , Raipur , Chhattisgarh State , India.
Hemoglobin. 2018 Mar;42(2):84-90. doi: 10.1080/03630269.2018.1483946.
Hemoglobinopathies evolved as a protective mechanism against malaria, which exhibit selective advantage in the heterozygous state. However, in a homozygous recessive condition, it poses a serious socioeconomic burden. Sickle cell anemia is an autosomal recessive hemoglobinopathy associated with erythrocytes sickling, vaso-occlusive crisis (VOC), as well as multi-organ failure and death. The coinheritance of other hemoglobinopathies is known to substantially modulate the clinical manifestation of sickle cell anemia. In the present study, we aimed to analyze the coinheritance of β-thalassemia (β-thal) in Hb S (HBB: c.20A>T) patients. The study includes 918 sickle cell anemia patients from 10 ethnic populations of Chhattisgarh State, India. Complete blood counts (CBCs) and hemoglobin (Hb) high performance liquid chromatography (HPLC) fractionation data were collected from patient record books. We observed Hb S-β-thal in all the analyzed populations. Interestingly, high frequencies of Hb S-β-thal have been observed in Satnami (53.8%), Rawat (47.1%), Gond (35.1%) and Panika (30.6%) populations. Inter-population comparison of hematological parameters [Hb F (p < 0.001), Hb A (p < 0.001), Hb (p = 0.03) and red blood cell distribution width (RDW) (p < 0.001)] revealed significant differences. We also observed that mean Hb F levels were significantly higher in Hb S compared to Hb S-β-thal patients in the respective populations. Our study highlights the higher prevalence of β-thal as well as the compound heterozygosity for Hb S and β-thal in various populations of Chhattisgarh State, India.
血红蛋白病作为一种对抗疟疾的保护机制而进化，在杂合状态下具有选择优势。然而，在纯合隐性条件下，它会带来严重的社会经济负担。镰状细胞贫血是一种常染色体隐性血红蛋白病，与红细胞镰变、血管阻塞性危机（VOC）以及多器官衰竭和死亡有关。已知其他血红蛋白病的共同遗传会显著调节镰状细胞贫血的临床表现。在本研究中，我们旨在分析Hb S（HBB：c.20A>T）患者中β地中海贫血（β-thal）的共同遗传情况。该研究纳入了来自印度恰蒂斯加尔邦10个民族的918例镰状细胞贫血患者。从患者病历中收集全血细胞计数（CBC）和血红蛋白（Hb）高效液相色谱（HPLC）分级数据。我们在所有分析的人群中都观察到了Hb S-β-thal。有趣的是，在萨特纳米（53.8%）、拉瓦特（47.1%）、贡德（35.1%）和帕尼卡（30.6%）人群中观察到了高频率的Hb S-β-thal。血液学参数[Hb F（p<0.001）、Hb A（p<0.001）、Hb（p = 0.03）和红细胞分布宽度（RDW）（p<0.001）]的人群间比较显示出显著差异。我们还观察到，在各人群中，Hb S患者的平均Hb F水平显著高于Hb S-β-thal患者。我们的研究突出了印度恰蒂斯加尔邦各人群中β-thal的较高患病率以及Hb S和β-thal的复合杂合性。
