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D56.1 – Beta-Thalassemia: Causes & Treatment
D56.1 is the ICD-10 code for beta-thalassemia, an inherited blood disorder affecting hemoglobin production. It causes chronic anemia and requires ongoing medical management.
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D56.1 is the ICD-10 code for beta-thalassemia, an inherited blood disorder affecting hemoglobin production. It causes chronic anemia and requires ongoing medical management.
What is D56.1 – Beta-Thalassemia?
D56.1 is the official ICD-10 diagnosis code for beta-thalassemia, an inherited disorder of hemoglobin metabolism. In this condition, the production of the beta-globin chains of hemoglobin (the red blood cell protein responsible for carrying oxygen) is reduced or completely absent. This leads to chronic anemia and, depending on severity, can be life-threatening.
Causes
Beta-thalassemia is caused by mutations in the HBB gene, which provides instructions for making beta-globin chains. The disorder follows an autosomal recessive inheritance pattern, meaning both parents must carry the genetic change for a child to develop the severe form of the disease.
- Mutations in the HBB gene on chromosome 11
- Autosomal recessive inheritance
- Most prevalent in Mediterranean countries, the Middle East, South and Southeast Asia, and Africa
Forms and Severity
Beta-thalassemia occurs in several degrees of severity:
- Thalassemia minor (carrier status): Only one gene is affected. Carriers are usually asymptomatic or have mild anemia.
- Thalassemia intermedia: Moderate anemia that may occasionally require transfusions.
- Thalassemia major (Cooley anemia): Severe form with profound anemia requiring regular blood transfusions. It typically presents in infancy.
Symptoms
Symptoms depend on the severity of the condition. In thalassemia major, the following may be present:
- Pale skin and fatigue due to anemia
- Enlarged spleen (splenomegaly) and liver (hepatomegaly)
- Bone pain and skeletal deformities (due to compensatory overactivity of the bone marrow)
- Growth retardation in children
- Yellowing of the skin (jaundice) due to elevated bilirubin levels
- Iron overload in organs (hemosiderosis) as a result of repeated transfusions
Diagnosis
The diagnosis is confirmed through several investigations:
- Complete blood count (CBC): Reveals microcytic, hypochromic anemia (small, pale red blood cells)
- Hemoglobin electrophoresis: Analysis of different hemoglobin subtypes
- Molecular genetic testing: Detection of HBB gene mutations
- Ferritin and iron status: To differentiate from iron-deficiency anemia
- Prenatal diagnosis: Available when both parents are known carriers
Treatment
Treatment depends on the severity of the condition:
Thalassemia Major
- Regular blood transfusions every 3–4 weeks to maintain adequate hemoglobin levels
- Iron chelation therapy (e.g., with deferoxamine or deferasirox) to remove excess iron from the body
- Bone marrow transplantation (allogeneic stem cell transplantation): Currently the only potentially curative option
- Gene therapy: Innovative approaches that may offer a functional cure for eligible patients
Thalassemia Minor and Intermedia
- Often requires no or only supportive treatment
- Regular monitoring is recommended
- Folic acid supplementation to support red blood cell production
References
- World Health Organization (WHO): Hereditary diseases programme – Thalassaemia. WHO, Geneva. Available at: https://www.who.int/genomics/public/geneticdiseases/en/index2.html
- Weatherall DJ, Clegg JB: The Thalassaemia Syndromes. 4th edition. Blackwell Science, Oxford, 2001.
- Cappellini MD et al.: Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT). 3rd edition. Thalassaemia International Federation (TIF), Nicosia, 2014.
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