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D56.9 – Thalassaemia, Unspecified
D56.9 is the ICD-10 code for thalassaemia, unspecified – an inherited blood disorder in which haemoglobin production is impaired due to genetic mutations.
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D56.9 is the ICD-10 code for thalassaemia, unspecified – an inherited blood disorder in which haemoglobin production is impaired due to genetic mutations.
What is D56.9?
The ICD-10 code D56.9 refers to thalassaemia, unspecified. Thalassaemias are a group of inherited haemolytic blood disorders characterised by reduced or absent synthesis of one or more globin chains of haemoglobin – the oxygen-carrying protein found in red blood cells. The designation “unspecified” indicates that the exact subtype (e.g. alpha- or beta-thalassaemia) has not been documented.
Causes
Thalassaemias are caused by mutations or deletions in genes encoding the globin chains of haemoglobin. The condition is inherited in an autosomal recessive pattern, meaning both parents must carry the defective gene for a child to develop the severe form of the disease.
- Alpha-thalassaemia: Affects the alpha-globin genes on chromosome 16.
- Beta-thalassaemia: Affects the beta-globin gene on chromosome 11.
- Particularly prevalent in the Mediterranean region, Middle East, Africa, South and Southeast Asia, and among Chinese populations.
Symptoms
The severity of symptoms depends on the subtype and the number of affected gene copies. Common symptoms include:
- Anaemia: Fatigue, weakness, pallor
- Enlargement of the spleen (splenomegaly) and liver (hepatomegaly)
- Bone pain and skeletal changes due to increased blood cell production in the bone marrow
- Delayed growth and puberty in children
- Jaundice caused by increased breakdown of red blood cells
- In severe forms: iron overload resulting from frequent blood transfusions
Diagnosis
The diagnosis of thalassaemia is established through:
- Full blood count: Detection of microcytic, hypochromic anaemia
- Haemoglobin electrophoresis: Identification of haemoglobin types and quantities
- Molecular genetic testing: Identification of the specific gene mutation
- Ferritin and iron status: Differentiation from iron deficiency anaemia
- Prenatal diagnosis: Available when a family history of thalassaemia is known
Treatment
Treatment depends on the severity of the condition:
- Mild forms (thalassaemia minor / carrier state): Usually no treatment is required; regular medical monitoring is recommended.
- Moderate to severe forms:
- Regular blood transfusions to maintain adequate haemoglobin levels
- Iron chelation therapy (e.g. with deferoxamine or deferasirox) to manage iron overload
- Folic acid supplementation to support red blood cell production
- Severe forms (thalassaemia major):
- Stem cell transplantation (allogeneic bone marrow transplant) as the only curative option
- Gene therapy: Emerging and promising approaches currently in clinical trials
Outlook and Prognosis
The prognosis varies greatly depending on the subtype. Carriers of thalassaemia (thalassaemia minor) generally lead normal lives with minimal complications. Severe forms (thalassaemia major) require lifelong specialised medical care. With modern treatment, life expectancy has improved significantly.
References
- World Health Organization (WHO) – Haemoglobin concentrations for the diagnosis of anaemia and assessment of severity. Geneva, 2011.
- Weatherall DJ – The inherited diseases of haemoglobin are an emerging global health burden. Blood. 2010;115(22):4331–4336. PubMed PMID: 20233970.
- Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V (eds.) – Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT). 3rd edition. Thalassaemia International Federation, 2014.
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