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Hemoglobin H disease caused by compound heterozygosity for α0-thalassemia Lamphun deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly case

Year: 2024

Type: article

Abstract: We report here for the first time with the deletional HbH disease caused by a compound heterozygosity for α0-thalassemia Lamphun type deletion and α+-thalassemia 3.7 kb deletion (--Lamphun/-α3.7) in a Thai elderly (61-year-old) subject. She was seen by her physician for fatigue and dyspnea. A physical examination revealed that she was a slightly pale patient. A complete blood cell count (CBC) showed microcytic hypochromic anemia (Hb 91 g/L, MCV 73.0 fL, and MCH 21.0 pg). However, she had no history for receiving a blood transfusion. Thus, the better understanding of genotype, phenotype, hematological and clinical features of this HbH disease (--Lamphun/-α3.7) will be useful for treatment, genetic counseling, prevention, and control programs of thalassemia in Thailand.

Source: Journal of Associated Medical Sciences

DOI: 10.12982/jams.2025.031

Authors: Sakorn Pornprasert, Chedtapak Ruengdit, Pinyaphat Khamphikham, Manoo Punyamung, Sasithorn Santiyos

Institution: Chiang Mai University

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4405800289

FWCI: 0.233

Cites:

Cited by: 1

Related to: 10