To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH)disease in West Guangxi region.

A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot(PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations. The results were compared with those of other regions.

The detection rate for HbH disease was 5.66%. Among the 1246 patients, 614 (49.28%) had deletion-type HbH disease, including -α^3.7/--^SEA(35.32%), -α^4.2/--^SEA(13.72%) and -a^3.7/--^THAI(0.24%), 632 (50.72%) had non-deleted HbH disease, mainly α ^CSα /--^SEA (44.86%), followed by α ^WSα /--^SEA(4.33%), α ^QSα /--^SEA(1.45%)and α ^CSα/--^THAI(0.08%). Co-committent HbH disease and β-thalassemia were detected in 54 cases (4.33%). Most patients with HbH disease showed mild to moderate anemia. Very few had severe anemia. Among these, patients with HbH-CS had the most severe anemia, and HbH-WS were the mildest. Hb levels in patients with HbH disease alone were lower than those with co-committent HbH and β-thalassemia. Compared with other regions, the incidence and genotype of HbH disease of West Guangxi are different.

The prevalence of HbH disease is high in West Guangxi region, and the main genotypeis non-deletion.α^CSα /--^SEA is the most common, and most of them had moderate anemia. Compared with the deletion-type HbH disease, non-deleted HbH patients were more severe.When HbH disease co-committed with β-thalassemia, the severity of anemia is reduced. The difference between West Guangxi and other regions may account for the variance of clinical manifestations and incidence of HbH disease in this region.

HbH disease; Genotype; Composition ratio; Thalassemia