Pei-Chin Lin 1,2,3 , Tai-Tsung Chang 4 , Yu-Mei Liao 2,3 , Shih-Pien Tsai 5 , Yen-Chu Chen 6 , Wan-Yi Hsu 2,3 , Hsiu-Lan Su 5 , Yu-Sheng Zeng 2,3 , Yu-Hsin Tseng 2 , Shyh-Shin Chiou 1,2,3 Show Affiliations »
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. © American Society for Clinical Pathology 2018. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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 . © American Society for Clinical Pathology 2018. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Entities: Chemical
Disease
Gene
Species
Keywords:
HbH disease; genotype; iron-chelation therapy; nontransfusion-dependent thalassemia (NTDT); splenectomy; α-thalassemia
Mesh： See more »
Substances： See more »
Year: 2019
PMID： 30295867 DOI： 10.1093/labmed/lmy043
Source DB: PubMed Journal: Lab Med ISSN： 0007-5027