Hemolytic anemia: genes and variants

Genes linked to Hemolytic anemia

• 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.

  1 disease-causing and 0 uncertain variants in HBB are linked to Hemolytic anemia.

• SLC4A1: Band 3 anion transport protein

  In red blood cells it exchanges chloride and bicarbonate to support carbon-dioxide transport, while in renal intercalated cells it is required for acid-base regulation. Pathogenic variants can cause hereditary spherocytosis or distal renal tubular acidosis depending on the affected function.

  0 disease-causing and 9 uncertain variants in SLC4A1 are linked to Hemolytic anemia.

• SPTB: Spectrin beta chain, erythrocytic

  It contributes beta-spectrin to the red-blood-cell membrane skeleton, linking the lipid bilayer to actin and ankyrin complexes. Pathogenic variants can cause hereditary spherocytosis, elliptocytosis, or related congenital hemolytic anemia.

  0 disease-causing and 0 uncertain variants in SPTB are linked to Hemolytic anemia.

Weakly linked (only a few uncertain records): G6PD, PIEZO1 and SPTA1.

Known disease-causing variants in Hemolytic anemia

Same protein, different disease

• Erythrocytosis, familial, 6 is also caused by HBB variants; they fall mostly in different places as the Hemolytic anemia variants (31 disease-causing).
• Beta thalassemia is also caused by HBB variants; they fall mostly in different places as the Hemolytic anemia variants (21 disease-causing).
• Beta-thalassemia HBB/LCRB is also caused by HBB variants; they fall mostly in different places as the Hemolytic anemia variants (18 disease-causing).
• Heinz body anemia is also caused by HBB variants; they fall mostly in different places as the Hemolytic anemia variants (12 disease-causing).
• Hemoglobinopathy is also caused by HBB variants; they fall mostly in different places as the Hemolytic anemia variants (12 disease-causing).

Diseases related to Hemolytic anemia

• Hereditary spherocytosis, also linked to SLC4A1 and SPTB
• 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
• Beta-thalassemia HBB/LCRB, also linked to HBB
• Renal tubulopathies, also linked to SLC4A1
• Hemoglobinopathy, also linked to HBB
• Autosomal dominant distal renal tubular acidosis, also linked to SLC4A1
• Dominant beta-thalassemia, also linked to HBB
• Alpha Thalassemia, also linked to HBB

Frequently asked questions

Which genes are linked to Hemolytic anemia?

In CATVariant, Hemolytic anemia is linked to 3 analyzed proteins: HBB (Hemoglobin subunit beta), SLC4A1 (Band 3 anion transport protein) and SPTB (Spectrin beta chain, erythrocytic).

How many genetic variants are linked to Hemolytic anemia?

14 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.

Which uncertain variants in Hemolytic anemia look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

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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