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D56.0 Alpha-Thalassemia – ICD-10 Diagnosis

D56.0 is the ICD-10 code for alpha-thalassemia, an inherited blood disorder characterized by reduced production of hemoglobin alpha-chains, leading to anemia.

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D56.0 is the ICD-10 code for alpha-thalassemia, an inherited blood disorder characterized by reduced production of hemoglobin alpha-chains, leading to anemia.

What is D56.0 – Alpha-Thalassemia?

D56.0 is the ICD-10 diagnosis code for alpha-thalassemia, an inherited disorder of the blood. In this condition, the production of alpha-globin chains of hemoglobin – the oxygen-carrying protein in red blood cells – is reduced or completely absent. Alpha-thalassemia belongs to the group of thalassemias, a family of hereditary hemolytic anemias.

Causes

Alpha-thalassemia is caused by mutations or deletions in the HBA1 and HBA2 genes located on chromosome 16. These genes regulate the production of alpha-globin chains. Normally, a person carries four copies of these genes (two per chromosome). Depending on how many gene copies are affected, different levels of disease severity result:

1 defective gene copy: Silent carrier – no symptoms whatsoever.
2 defective gene copies: Alpha-thalassemia minor (mild anemia or no complaints).
3 defective gene copies: Hemoglobin H disease (moderate to severe hemolytic anemia).
4 defective gene copies: Alpha-thalassemia major / Hydrops fetalis – life-threatening, usually fatal before or shortly after birth.

The condition is especially common in Southeast Asia, Africa, the Mediterranean region, and the Middle East.

Symptoms

Symptoms vary greatly depending on the severity of the condition:

Fatigue, weakness, and pallor due to anemia
Enlargement of the spleen and liver (hepatosplenomegaly)
Yellowing of the skin or eyes (jaundice / icterus)
Slowed growth in children
In hemoglobin H disease: hemolytic crises (sudden breakdown of red blood cells), triggered by infections or certain medications
In the most severe form (hydrops fetalis): severe edema and organ dysfunction in the newborn or fetus

Diagnosis

Diagnosis of alpha-thalassemia involves several investigations:

Complete blood count (CBC): reveals small, pale red blood cells (microcytic, hypochromic anemia)
Hemoglobin electrophoresis: detection of abnormal hemoglobins (e.g., hemoglobin H or Barts)
Molecular genetic testing: identification of specific gene deletions or mutations
Prenatal diagnosis: in at-risk pregnancies via chorionic villus sampling or amniocentesis

Treatment

Treatment depends on disease severity:

Silent carrier / Alpha-thalassemia minor: usually no treatment required; genetic counseling is recommended
Hemoglobin H disease: folic acid supplementation, avoidance of oxidative triggers (certain drugs, infections); blood transfusions when needed
Regular blood transfusions for severe forms, combined with iron chelation therapy to prevent iron overload
Allogeneic stem cell transplantation: potentially curative in severe cases
Gene therapy: promising approaches currently under clinical investigation

References

Weatherall DJ. - The Thalassaemias: Disorders of Globin Synthesis. In: Kaushansky K et al. (eds.), Williams Hematology, 9th edition, McGraw-Hill, 2016.
World Health Organization (WHO) - Management of Haemoglobin Disorders. Report of a Joint WHO-TIF Meeting, Nicosia, 2007. Available at: https://www.who.int
Harteveld CL, Higgs DR. - Alpha-thalassaemia. Orphanet Journal of Rare Diseases, 2010;5:13. DOI: 10.1186/1750-1172-5-13.

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