Gene · Blood

HBB

Haemoglobin subunit beta · Encodes the beta chain of adult haemoglobin; a single-letter change in it causes sickle cell disease, and reduced output causes beta thalassemia.

11p15.4 bloodsickle cellthalassemia

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Gene này làm gì

HBB is the recipe for one of the two protein chains that make up adult haemoglobin, the molecule that carries oxygen in your blood. Change one letter of the recipe and the protein sticks to itself, causing sickle cell disease. Make too little of it and you get beta thalassemia. One gene, two very different diseases, depending on how it goes wrong.

HBB, at 11p15.4, encodes haemoglobin subunit beta. The p.Glu6Val variant (rs334) produces haemoglobin S, which polymerises when deoxygenated. Over 300 HBB variants reduce or abolish beta-globin synthesis, causing beta thalassemia. Approved editing therapy does not target HBB itself but the BCL11A enhancer, reactivating fetal haemoglobin as a functional substitute.

Sources

MedlinePlus Genetics, U.S. National Library of Medicine
HBB gene ↗

Written by CRISPR Decoded editorial team Last updated Oct 27, 2026

Hồ sơ gene

Ký hiệu	HBB
Tên đầy đủ	Haemoglobin subunit beta
Còn được biết đến là	beta-globin, haemoglobin subunit beta, hemoglobin subunit beta
Nhiễm sắc thể	11p15.4
NCBI Gene ID	3043 ↗
Protein được tạo ra	Beta-globin
Di truyền	Autosomal recessive
Phương pháp chỉnh sửa	Indirect: BCL11A enhancer disruption to induce fetal haemoglobin

Diseases

Treatments

Connected in CRISPR Decoded

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Diseases

Beta Thalassemia Sickle Cell Disease

Treatments

Casgevy (exagamglogene autotemcel)Lyfgenia (lovotibeglogene autotemcel)Risto-cel (BEAM-101)

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