Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease.

Abstract:

OBJECTIVES:We analyzed hemoglobin (Hb) levels and degree of anemia in relation to genotype in patients with hemoglobin H (Hb H) disease, thereby providing a scientific basis for the prevention and treatment of Hb H disease in the Guangxi region of China. METHODS:Hb analysis was conducted in 615 patients using high performance liquid chromatography. Seven α-thalassemia and 17 β-thalassemia genotypes commonly found in the Chinese population were detected by Gap-polymerase chain reaction and reverse dot hybridization. Multiple ligation-dependent probe amplification and sequencing were used to detect α-globin gene. RESULTS:On analyzing the degree of anemia, we found that the proportion of severe and moderate anemia was the highest among cases with - SEA/αCSα genotype, followed by - SEA/αQSα. When Hb H disease was present in combination with β-thalassemia, the clinical symptoms of most patients were milder than those with simple Hb H disease. CONCLUSION:The clinical manifestations of various types of Hb H disease are heterogeneous; the Hb levels of patients with deletional Hb H are generally higher than those with non-deletional Hb H (P < 0.05). In-depth knowledge of the gene mutation spectrum of thalassemia in Guangxi can provide a basis for genetic counseling of couples and enable prenatal diagnosis.

journal_name

Expert Rev Hematol

authors

Luo S,Chen X,Chen L,Zhong Q,Wang Q,Xu Z,Huang J,Yan T,Tang N

doi

10.1080/17474086.2020.1803736

subject

Has Abstract

pub_date

2020-09-01 00:00:00

pages

1027-1033

issue

9

eissn

1747-4086

issn

1747-4094

journal_volume

13

pub_type

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