Hemoglobin Reims —a rare alpha globin chain variant and its interaction with beta thalassemia

We describe here two brothers (patients 1 and 2) with Hb Reims, a rare alpha globin chain variant that eluted in HbS window. Hb analysis was performed by HPLC. Covalent reverse dot blot and refractory mutation system (ARMS) were used for detection of common beta globin gene mutations. Alpha and beta globin gene mutation analysis was performed by DNA sequencing. Both brothers had “thalassemia trait-like” red cell indices. HbA2 was high (4.9%) in patient 2 and normal (2.7%) in patient 1. HbF was normal (0.3%) in both. The abnormal Hb peaks in patient 1 (21.7%) and patient 2 (13.8%) eluted at 4.51 and 4.48  min, respectively, in HPLC. Sickling test was negative in both. Gene sequencing confirmed heterozygous Hb Reims in both brothers resulting from an HBA1:c.71AC, GluGly; Codon 23 (GAG→GGG) mutation of alpha 1 globin gene. Both also had an alpha globin gene deletion (− α3.7/ αα). Patient 2 additionally had heterozygous beta thalassemia resulting from Codon 15 (G→A) beta globin gene mutation. Hb Reims is a clinically silent Hb variant that needs to be distinguished from HbS. A co-existent beta thalassemia seems to have lowered the level of Hb Reims in patient 2. Only one case of Hb Reims has been reported earlier in the world literature and none from India where the two brothers hail from.
Source: Journal of Hematopathology - Category: Pathology Source Type: research