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D56.2 Deltabeta Thalassemia – Definition & Treatment
D56.2 is the ICD-10 code for deltabeta thalassemia, a rare hereditary blood disorder affecting hemoglobin production in red blood cells.
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D56.2 is the ICD-10 code for deltabeta thalassemia, a rare hereditary blood disorder affecting hemoglobin production in red blood cells.
What is D56.2 – Deltabeta Thalassemia?
D56.2 is the official diagnostic code in the ICD-10 classification (International Classification of Diseases, 10th Revision) for deltabeta thalassemia. This is a rare, inherited disorder of hemoglobin synthesis in which the production of both delta (δ) and beta (β) globin chains of hemoglobin is reduced or completely absent. Hemoglobin is the red pigment in red blood cells (erythrocytes) responsible for transporting oxygen throughout the body.
Causes
Deltabeta thalassemia is inherited in an autosomal recessive pattern, meaning a child must inherit an altered gene from both parents to develop the full condition. The underlying cause is a deletion or mutation in the delta- and beta-globin gene cluster on chromosome 11. Several forms exist:
- Deltabeta thalassemia trait (carrier status): Only one gene copy is altered – usually mild or no symptoms.
- Homozygous deltabeta thalassemia: Both gene copies are affected – more pronounced symptoms possible.
- Compound heterozygosity: A deltabeta mutation combined with another thalassemia mutation.
The condition primarily affects people of Mediterranean, Middle Eastern, Central Asian, and certain African ancestry.
Compensatory Mechanism: Elevated Fetal Hemoglobin
A hallmark feature of deltabeta thalassemia is the compensatory increase in fetal hemoglobin (HbF). Because neither delta nor beta globin chains are produced in sufficient quantities, the body increases production of gamma chains (γ), which form HbF. This significantly reduces the severity of anemia in many affected individuals.
Symptoms
Symptoms vary greatly depending on genotype:
- Mild to moderate hemolytic anemia (breakdown of red blood cells)
- Fatigue and weakness
- Pale skin and mucous membranes
- Enlargement of the spleen (splenomegaly) and liver (hepatomegaly)
- Bone changes in severe cases (due to increased blood cell production activity)
- Growth delay in children with severe forms
Carriers (heterozygous individuals) are often completely asymptomatic and discover their status only through incidental blood test findings or genetic testing.
Diagnosis
Diagnosis of deltabeta thalassemia involves several investigations:
- Complete blood count (CBC): Reveals microcytic hypochromic anemia (small, pale red blood cells).
- Hemoglobin electrophoresis or HPLC: Demonstrates elevated HbF; HbA2 is typically normal or reduced (in contrast to classic beta thalassemia).
- Molecular genetic testing: Identifies deletions or mutations in the deltabeta globin gene cluster on chromosome 11.
- Family history: Multiple family members are often affected or carriers.
Treatment
Treatment depends on the severity of the condition:
- Mild cases / carrier status: No treatment is usually required. Regular monitoring is recommended.
- Moderate anemia: Folic acid supplementation to support blood production; avoidance of both iron deficiency and iron overload.
- Severe cases: Regular blood transfusions for severe anemia; chelation therapy to remove excess iron in transfusion-dependent patients.
- Stem cell transplantation: A potentially curative option in selected severe cases.
- Genetic counseling: Strongly recommended for affected families, especially those planning to have children.
References
- Weatherall DJ, Clegg JB. The Thalassaemia Syndromes. 4th ed. Blackwell Science, 2001.
- Origa R. Beta-Thalassemia. In: Adam MP et al., eds. GeneReviews. University of Washington, Seattle; updated 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1426/
- World Health Organization (WHO). Management of Haemoglobin Disorders: Report of a Joint WHO-TIF Meeting. Geneva: WHO Press, 2008.
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