Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients

Abstract

The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types and 18 with nondeletional types. β-Thalassemia was found in 28 (7.8%) out of the 361 Hb H cases, and all of the 28 cases had the deletional type of Hb H disease. Lower hemoglobin (Hb) levels were detected in cases with the nondeletional type compared to those in cases with the deletional type. β-Thalassemia significantly increases the Hb levels in Hb H cases. The Hb H and Hb Bart’s (γ4) fractions were visible in 270 (85.7%) and 122 (38.7%) out of 315 deletional type cases, respectively, while no Hb H or Hb Bart’s fractions were detectable in 28 deletional type cases with β-thal. Therefore, the diagnosis of Hb H disease in a β-thal carrier is challenging. Molecular analysis of α- and β-globin genes is imperative in all cases with a β-thal trait.

Keywords:

• α-Thalassemia (α-thal)
• β-thalassemia (β-thal)
• genetic association
• Hb H disease

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by grants from the NSFC/National Natural Science Foundation of China [81571448], the Guangdong Provincial Department of Science and Technology Agency [2016A020215218], and Guangzhou Health and Family Planning Commission [20181A011035].