Clinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan

Abstract

Background: The genetic background of patients with hemoglobin (Hb) H disease in Taiwan has been investigated; however, the clinical features and treatment outcomes were not reported.

Objective: To analyze the clinical features and genotypes of patients with HbH who reside in Taiwan.

Methods: We conducted a retrospective analysis of the clinical and molecular characteristics of 38 patients with HbH disease who were undergoing treatment at Kaohsiung Medical University Hospital, Taiwan.

Results: Initial Hb levels were lower and the numbers of patients requiring iron-chelation therapy were higher in the nondeletional HbH group than in the deletional HbH group (P <.05). Compared with the healthy population, the patients with HbH disease exhibited short body length, low body weight, and low body mass index (BMI).

Conclusions: Patients with nondeletional HbH disease had lower Hb levels and a higher requirement for splenectomy and iron-chelation therapy than did those with deletional HbH disease. Also, growth status was compromised in patients with HbH disease.

Keywords: HbH disease; genotype; iron-chelation therapy; nontransfusion-dependent thalassemia (NTDT); splenectomy; α-thalassemia.