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Condition report · Hematological

Hereditary Methemoglobinemia

Inherited conditions in which haemoglobin, the oxygen-carrying protein in red cells, either turns too readily into a form that cannot carry oxygen (methaemoglobin) or is unstable and breaks down. They can cause a bluish skin colour, low oxygen readings or haemolytic anaemia.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Hereditary Methaemoglobinaemia

Raised methaemoglobin levels from birth, caused by recessive changes in CYB5R3 or CYB5A or by dominant haemoglobin M variants in the globin genes; type II CYB5R3 deficiency also causes severe developmental problems.

What a diagnosis changes

Knowing about it explains unexplained cyanosis and helps avoid medicines that raise methaemoglobin, such as dapsone, benzocaine and nitrites; methylene blue treats the enzyme forms but must not be given to people with G6PD deficiency.

Genes analysed

Also known as

autosomal recessive methemoglobinemia; congenital methemoglobinemia

Includes 5 related subtypes ↓
  • hemoglobin M disease
  • methemoglobin reductase deficiency
  • methemoglobinemia due to deficiency of methemoglobin reductase
  • methemoglobinemia type 4
  • methemoglobinemia, alpha type
MONDO:0018963Orphanet 621MedGen 473013

Unstable Haemoglobin Disease

Autosomal dominant

A dominant condition caused by globin gene variants that make haemoglobin unstable, so it clumps inside red cells and causes haemolytic anaemia of varying severity.

What a diagnosis changes

Knowing about it helps avoid oxidant medicines that can worsen haemolysis and explains flare-ups during infections.

Genes analysed

MONDO:0020459Orphanet 99139MedGen 82893

Heinz Body Anaemia

Autosomal dominant

A dominant form of haemolytic anaemia in which unstable haemoglobin forms clumps (Heinz bodies) inside red cells.

What a diagnosis changes

Knowing about it helps avoid oxidant medicines that can worsen haemolysis.

Genes analysed

Also known as

Heinz body anemias, alpha-

MONDO:0007705OMIM 140700Orphanet 178330MedGen 148583

Limitations

  • The two alpha-globin genes (HBA1 and HBA2) are nearly identical, so variants in them are hard to place reliably, and deletions of these genes need copy-number analysis and may be missed.

Other hematological conditions

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