Beta-thalassemia HBB/LCRB: genes and variants

Genes linked to Beta-thalassemia HBB/LCRB

• HBB: Hemoglobin subunit beta

  Beta-globin, one of the two major protein chains in adult hemoglobin. Hemoglobin uses these chains to transport oxygen from the lungs to tissues, and HBB variants are associated with sickle-cell disease and beta-thalassemia.

  18 disease-causing and 20 uncertain variants in HBB are linked to Beta-thalassemia HBB/LCRB.

Known disease-causing variants in Beta-thalassemia HBB/LCRB

Uncertain variants in Beta-thalassemia HBB/LCRB that look disease-causing

Which prediction tools work for Beta-thalassemia HBB/LCRB

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• phyloP: 83 out of 100
• PolyPhen-2: 77 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CADD: 76 out of 100
• CATVariant: 73 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• AlphaMissense: 70 out of 100
• REVEL: 64 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 61 out of 100
• ESM1b (LLR): 60 out of 100
• MetaLR: 58 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Erythrocytosis, familial, 6 is also caused by HBB variants; they fall partly in the same places as the Beta-thalassemia HBB/LCRB variants (31 disease-causing).
• Beta thalassemia is also caused by HBB variants; they fall partly in the same places as the Beta-thalassemia HBB/LCRB variants (21 disease-causing).
• Heinz body anemia is also caused by HBB variants; they fall in the same places as the Beta-thalassemia HBB/LCRB variants (12 disease-causing).
• Hemoglobinopathy is also caused by HBB variants; they fall partly in the same places as the Beta-thalassemia HBB/LCRB variants (12 disease-causing).
• Dominant beta-thalassemia is also caused by HBB variants; they fall partly in the same places as the Beta-thalassemia HBB/LCRB variants (11 disease-causing).

Diseases related to Beta-thalassemia HBB/LCRB

• Erythrocytosis, familial, 6, also linked to HBB
• Malaria, also linked to HBB
• Beta thalassemia, also linked to HBB
• Heinz body anemia, also linked to HBB
• Atypical hemolytic-uremic syndrome, also linked to HBB
• Hemoglobinopathy, also linked to HBB
• Dominant beta-thalassemia, also linked to HBB
• Alpha Thalassemia, also linked to HBB
• METHEMOGLOBINEMIA, BETA TYPE, also linked to HBB
• Hemolytic anemia, also linked to HBB

Frequently asked questions

Which genes are linked to Beta-thalassemia HBB/LCRB?

In CATVariant, Beta-thalassemia HBB/LCRB is linked to 1 analyzed protein: HBB (Hemoglobin subunit beta).

How many genetic variants are linked to Beta-thalassemia HBB/LCRB?

45 variants: 18 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 20 are of uncertain significance or have conflicting reports.

Which uncertain variants in Beta-thalassemia HBB/LCRB look disease-causing?

1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example HBB R31S. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Beta-thalassemia HBB/LCRB?

Among tools not trained on clinical labels, phyloP separates this disease's known disease-causing variants from harmless ones best (AUROC 0.83, based on 8 disease-causing and 10 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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