Sahoo Sulagna, Sahu Nageswar, Das Palash, Senapati Urmila
Department of Pathology, Kalinga Institute of Medical Sciences (KIMS), KIIT University, Bhubaneswar, Odisha, India.
Department of Pediatrics, Kalinga Institute of Medical Sciences (KIMS), KIIT University, Bhubaneswar, Odisha, India.
Indian J Pathol Microbiol. 2023 Apr-Jun;66(2):327-331. doi: 10.4103/ijpm.ijpm_233_21.
β-thalassemia trait is usually diagnosed by raised hemoglobin A (HbA). The presence of megaloblastic anemia can cause an increase in HbA and create a diagnostic dilemma. Here, we have analyzed the effect of vitamin B12 and folic acid supplementation on HbA and diagnosis of β-thalassemia trait in cases of megaloblastic anemia with raised HbA.
Cases of megaloblastic anemia with raised HbA on high-performance liquid chromatography (HPLC) were supplemented with vitamin B12 and folic acid. Post-treatment evaluation was done after 2 months. Cases showing adequate hematological response were subjected to statistical analysis. Based on post-treatment HbA value, the cases were diagnosed as normal, borderline raised HbA, or β-thalassemia trait. Pre- and post-treatment values of red cell parameters and HbA were analyzed.
There was a significant decrease in HbA value after vitamin B12 and folic acid supplementation. The diagnosis was changed in 70.97% of the cases after treatment. The chance of inconclusive diagnosis was decreased from more than 50% to less than 10%. Pre-treatment mean corpuscular volume (MCV) and HbA% showed a significant difference between the thalassemic and normal groups.
Megaloblastic anemia can lead to false-positive diagnosis of β-thalassemia trait on HPLC. Repeat HPLC should be done after adequate supplementation of vitamin B12 and folic acid in cases of megaloblastic anemia with raised HbA. Red cell parameters are not helpful to suspect β-thalassemia trait in presence of megaloblastic anemia. However, HbA% on HPLC can be a useful parameter to suspect or exclude β-thalassemia trait in cases of megaloblastic anemia.
β地中海贫血特征通常通过血红蛋白A（HbA）升高来诊断。巨幼细胞贫血的存在可导致HbA升高，并造成诊断困境。在此，我们分析了补充维生素B12和叶酸对HbA的影响以及在HbA升高的巨幼细胞贫血病例中β地中海贫血特征的诊断情况。
对高效液相色谱（HPLC）检测显示HbA升高的巨幼细胞贫血病例补充维生素B12和叶酸。2个月后进行治疗后评估。对显示出充分血液学反应的病例进行统计分析。根据治疗后的HbA值，将病例诊断为正常、临界HbA升高或β地中海贫血特征。分析红细胞参数和HbA的治疗前和治疗后值。
补充维生素B12和叶酸后，HbA值显著降低。治疗后70.97%的病例诊断发生了改变。不确定诊断的几率从超过50%降至不到10%。治疗前平均红细胞体积（MCV）和HbA%在地中海贫血组和正常组之间存在显著差异。
巨幼细胞贫血可导致HPLC对β地中海贫血特征的假阳性诊断。对于HbA升高的巨幼细胞贫血病例，在充分补充维生素B12和叶酸后应重复进行HPLC检测。在存在巨幼细胞贫血的情况下，红细胞参数无助于怀疑β地中海贫血特征。然而，HPLC检测的HbA%在怀疑或排除巨幼细胞贫血病例中的β地中海贫血特征时可能是一个有用的参数。
