Genotype-phenotype correlation in patients with deletional and nondeletional mutations of Hb H disease in Southwest of Iran

We studied the alpha-globin gene genotypes, hematologic values, and transfusion-dependence of patients with Hb H disease. Molecular characterization of alpha-thalassemia was performed. We identified 120 patients with Hb H disease. Of these patients, 35 (29.16%) had deletional form of Hb H disease, and 85 (70.83%) had different form of non-deletional Hb H disease. The most frequently observed Hb H genotypes were --(Med)/-alpha(3.7) in 33 patients (27.5%), alpha(CD19(-G)) alpha(/alpha CD19(-G)) alpha in 25 cases (20.83%), alpha(polyA2)alpha/alpha(polyA2)alpha in 15 (12.5%), and alpha(polyA1)alpha/alpha(polyA1)alpha in 13 (10.83%) respectively. The probability of receiving at least one transfusion blood in deletional form was observed in 3 of 35 (8.57%) patients which just seen in 3 of 33 (9%) patients with --(Med)/-alpha(3.7) genotype. This form was also observed in 8 of 85 (9.4%) patients in non-deletional Hb H diseases which five of them had Med deletion in compound with alpha globin point mutations. Nondeletional Hb H disease was more severe than deletional Hb H disease requiring more blood transfusions. We can recommend that Med deletion in compound with alpha-globin point mutations, polyA1 and constant spring in homozygous form needs to be taken into consideration when offering counseling to high-risk couples.

Automated summary

The study analyzed the genotypes, hematologic values, and transfusion-dependence in patients with Hb H disease. It found that non-deletional Hb H disease is more severe and requires more blood transfusions compared to deletional Hb H disease. Specific gene mutations should be taken into consideration during counseling for high-risk couples.