D58.8 – Hereditary Haemolytic Anaemia
D58.8 is the ICD-10 code for other specified hereditary haemolytic anaemias – rare genetic blood disorders in which red blood cells are prematurely destroyed.
Things worth knowing about "D58.8"
D58.8 is the ICD-10 code for other specified hereditary haemolytic anaemias – rare genetic blood disorders in which red blood cells are prematurely destroyed.
What is D58.8?
The ICD-10 code D58.8 refers to other specified hereditary haemolytic anaemias. This code covers a group of rare, genetically determined blood disorders in which red blood cells (erythrocytes) are prematurely destroyed due to an inherited defect. This process is called haemolysis. Because erythrocytes are broken down faster than the bone marrow can replace them, anaemia (a deficiency of red blood cells) develops.
This category includes hereditary haemolytic anaemias that are clearly diagnosed and specified, but do not fall under the more common subcategories such as hereditary spherocytosis (D58.0), hereditary elliptocytosis (D58.1), or sickle cell disease.
Causes
The causes of D58.8 are genetic in origin. Various mutations can lead to structural or enzymatic changes in erythrocytes, making them more susceptible to premature destruction. Possible causes include:
- Defects in membrane proteins of red blood cells (e.g., stomatocytosis, pyropoikilocytosis)
- Enzyme deficiencies in erythrocyte metabolism not classified elsewhere
- Haemoglobin disorders that are not classified as sickle cell disease or thalassaemia
- Rare membrane skeleton defects leading to increased osmotic fragility of erythrocytes
Inheritance patterns vary depending on the underlying genetic defect and may be autosomal dominant, autosomal recessive, or X-linked.
Symptoms
The clinical presentation is variable and ranges from mild to severe. Typical symptoms of haemolytic anaemia include:
- Fatigue and general weakness
- Pallor of the skin and mucous membranes
- Jaundice (icterus) due to elevated bilirubin levels resulting from erythrocyte breakdown
- Enlarged spleen (splenomegaly) as a response to increased destruction of blood cells
- Gallstones caused by chronically elevated bilirubin
- Haemolytic crises with sudden deterioration, often triggered by infections or physical stress
- In children: possible growth retardation and developmental delays
Diagnosis
Diagnosis is established through a combination of medical history, clinical examination, and laboratory testing:
- Complete blood count (CBC): Evidence of anaemia (low haemoglobin, elevated reticulocyte count)
- Bilirubin levels: Elevated indirect bilirubin as a sign of haemolysis
- Lactate dehydrogenase (LDH): Elevated as a marker of cell breakdown
- Haptoglobin: Reduced in the presence of haemolysis
- Blood smear: Morphological assessment of erythrocytes (e.g., detection of stomatocytes, elliptocytes)
- Osmotic fragility test: Assesses the stability of the erythrocyte membrane
- Molecular genetic testing: Identification of the underlying gene defect
- Family history: An important indicator in hereditary conditions
Treatment
A curative treatment is not available for most hereditary haemolytic anaemias. Management is based on the severity of the condition and individual symptoms:
- Folic acid supplementation: To support increased red blood cell production in the bone marrow
- Blood transfusions: In cases of severe haemolytic crises or pronounced anaemia
- Splenectomy (surgical removal of the spleen): Can significantly reduce haemolysis in certain forms
- Chelation therapy: For transfusion-related iron overload
- Stem cell transplantation: In severe cases as a potentially curative approach
- Regular monitoring: Blood counts, bilirubin levels, spleen size, and gallstone screening
References
- World Health Organization (WHO): ICD-10 International Statistical Classification of Diseases and Related Health Problems, 10th Revision – Code D58.8: Other specified hereditary haemolytic anaemias. www.who.int
- Lanzkowsky P, Lipton JM, Fish JD: Lanzkowsky's Manual of Pediatric Hematology and Oncology, 6th edition, Academic Press, 2016 – Chapter: Hereditary Hemolytic Anemias.
- Gallagher PG: Hereditary elliptocytosis: spectrin and protein 4.1R. Seminars in Hematology, 2004; 41(2):142-164. PubMed PMID: 15071796.
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