Sharma Anjali, Marwah Sadhna, Buxi Gurdeep, Yadav Rajbala
Department of Pathology, Dr. Ram Manohar Lohia Hospital and PGIMER, New Delhi, India.
Indian J Hematol Blood Transfus. 2013 Mar;29(1):21-5. doi: 10.1007/s12288-011-0140-9. Epub 2012 Jan 31.
Hemoglobin E (HbE) is one of the world's most common and important mutations. HbE disorders may be found in heterozygous (AE), homozygous (EE) and compound heterozygous state. It is important to distinguish HbE disorders diagnostically because of marked differences in clinical course among different genotypes. To find out whether RBC indices as obtained from automated cell counter can provide a clue to the diagnosis of HbE disease. This study was carried out in the Department of Clinical Pathology, PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi. It included antenatal pregnant females brought for routine check-up as well as referred patients suspected of having hemoglobinopathies. High Performance liquid chromatography was used as a confirmatory test for identification of hemoglobinopathy. Total 20 cases of subtype homozygous HbE (3), HbE trait (12) and Eβ-thalassemia (5) were identified. Statistical analysis was done to find out correlation between levels of HBA2, HBF with RBC indices. (a) There was negative correlation between HbA2/E peak values and RBC indices (Mean corpuscular volume (MCV) and Mean corpuscular hemoglobin) among all the three groups taken together. (b) There was positive correlation between HbA2/E and Red cell distribution width (RDW). (c) There was positive correlation between HbF values with MCV. The finding of positive correlation between HbA2/E and RDW may help in differentiating βthal (RDW normal) from HbE/βthal. In a patient with microcytic hypochromic blood picture and increased RDW, diagnosis of HbE/βthal should also be considered along with the more common Iron deficiency anemia. Thus, new insights into the knowledge of these diseases are important because they impart diagnostic challenges to all the experts involved in the treatment of anemic patients.
血红蛋白E（HbE）是世界上最常见且重要的突变之一。HbE疾病可见于杂合子（AE）、纯合子（EE）和复合杂合子状态。由于不同基因型的临床病程存在显著差异，因此在诊断上区分HbE疾病很重要。为了弄清楚自动血细胞计数器得出的红细胞指数是否能为HbE疾病的诊断提供线索。本研究在新德里拉姆·马诺哈尔·洛希亚医院PGIMER临床病理科开展。研究对象包括前来进行常规检查的产前孕妇以及疑似患有血红蛋白病的转诊患者。高效液相色谱法被用作确认血红蛋白病的检测方法。共鉴定出20例纯合子HbE亚型（3例）、HbE特征型（12例）和Eβ地中海贫血（5例）。进行统计分析以找出HBA2、HBF水平与红细胞指数之间的相关性。（a）在所有三组中，HbA2/E峰值与红细胞指数（平均红细胞体积（MCV）和平均红细胞血红蛋白）之间呈负相关。（b）HbA2/E与红细胞分布宽度（RDW）之间呈正相关。（c）HbF值与MCV之间呈正相关。HbA2/E与RDW之间呈正相关这一发现可能有助于区分β地中海贫血（RDW正常）与HbE/β地中海贫血。对于出现小细胞低色素性血象且RDW升高的患者，除了更常见的缺铁性贫血外，还应考虑诊断为HbE/β地中海贫血。因此，对这些疾病知识的新见解很重要，因为它们给所有参与贫血患者治疗的专家带来了诊断挑战。
