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Condition report · Hematological

Red Blood Cell Membrane Disorders

Conditions affecting the structural integrity or function of the red blood cell membrane, leading to abnormal cell shape, increased fragility, or hemolytic anemia.

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

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The 4 conditions we analyse

Hereditary Stomatocytosis

Autosomal dominant

A group of conditions in which red cells leak or gain water and salts, including dehydrated hereditary stomatocytosis (PIEZO1, KCNN4), overhydrated stomatocytosis (RHAG), Southeast Asian ovalocytosis and Rh-deficiency syndrome, causing haemolytic anaemia of varying severity and sometimes iron overload.

What a diagnosis changes

Spleen removal should be avoided because it raises the risk of serious blood clots in these conditions.

Genes analysed

Also known as

hereditary stomatocytic disease

Specific forms also covered

  • Cryohydrocytosis

    Autosomal dominant

    A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.

    SLC4A1

Includes 9 related subtypes ↓
  • cryohydrocytosis
  • dehydrated hereditary stomatocytosis
  • dehydrated hereditary stomatocytosis 2
  • dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
  • familial pseudohyperkalemia
  • hereditary cryohydrocytosis with reduced stomatin
  • overhydrated hereditary stomatocytosis
  • Rh deficiency syndrome
  • southeast Asian ovalocytosis
MONDO:0020102Orphanet 98365MedGen 490161

Hereditary Elliptocytosis

Autosomal dominant

Inherited changes in red cell skeleton proteins, mainly encoded by SPTA1, SPTB or EPB41, that make red cells oval or elongated; most people have no symptoms, but some have haemolytic anaemia.

What a diagnosis changes

Knowing about it explains unusual blood film findings and guides management of anaemia where present.

Genes analysed

Also known as

congenital elliptocytosis; Hashimoto Encephalopathy; HE; hereditary ovalocytosis; ovalocytosis

Includes 5 related subtypes ↓
  • elliptocytosis 1
  • elliptocytosis 2
  • elliptocytosis 3
  • hemolytic anemia with thermal sensitivity of red cells
  • southeast Asian ovalocytosis
MONDO:0017319Orphanet 288MedGen 41747

Hereditary Pyropoikilocytosis

Autosomal recessive

A severe recessive red cell membrane disorder, usually caused by changes in both copies of SPTA1 or SPTB, in which red cells are fragile and abnormally shaped, causing haemolytic anaemia from infancy.

What a diagnosis changes

A diagnosis guides transfusion support and decisions about spleen removal.

Genes analysed

Also known as

HPP; pyropoikilocytosis

MONDO:0009948OMIM 266140Orphanet 98867MedGen 141708

Other hematological conditions

All conditions →

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