D58.2 – Other Hemoglobinopathies | ICD-10
D58.2 is the ICD-10 code for other hemoglobinopathies – hereditary disorders of hemoglobin that can cause anemia and related complications.
Things worth knowing about "D58.2"
D58.2 is the ICD-10 code for other hemoglobinopathies – hereditary disorders of hemoglobin that can cause anemia and related complications.
What is D58.2?
The ICD-10 code D58.2 refers to other hemoglobinopathies. This is a group of genetically inherited conditions in which the structure or function of hemoglobin – the red pigment in red blood cells responsible for oxygen transport – is abnormal. The D58.2 category includes hemoglobin disorders that do not fall under more specific ICD classifications, such as rare structural hemoglobin variants.
Causes
Hemoglobinopathies are caused by mutations in the genes encoding the subunits of the hemoglobin protein. These mutations are typically inherited in an autosomal recessive pattern, meaning both copies of the relevant gene must carry the mutation for the condition to manifest. Conditions coded under D58.2 include:
- Rare structural hemoglobin variants (e.g., hemoglobin C, D, E, and others)
- Combined hemoglobin mutation disorders
- Unstable hemoglobin variants prone to degradation
Symptoms
Clinical manifestations vary widely depending on the type and severity of the hemoglobinopathy. Common symptoms include:
- Anemia: fatigue, weakness, pallor
- Hemolysis: premature breakdown of red blood cells, which may cause jaundice (icterus)
- Enlargement of the spleen and liver (splenomegaly, hepatomegaly)
- Increased susceptibility to infections
- In severe cases: growth retardation in children and organ damage
Diagnosis
The diagnosis of a hemoglobinopathy involves several diagnostic steps:
- Complete blood count (CBC): detection of anemia and abnormal red blood cell morphology
- Hemoglobin electrophoresis or HPLC (high-performance liquid chromatography): identification of abnormal hemoglobin variants
- Molecular genetic testing: confirmation of the underlying gene mutation
- Newborn screening: many countries include hemoglobinopathy screening in neonatal programs
Treatment
Treatment depends on the specific hemoglobinopathy and its severity:
- Folic acid supplementation: supports red blood cell production in hemolytic conditions
- Blood transfusions: used for severe anemia
- Chelation therapy: manages iron overload resulting from repeated transfusions
- Splenectomy: surgical removal of the spleen in selected cases of excessive red blood cell destruction
- Allogeneic stem cell transplantation: the only potentially curative treatment for severe forms
- Gene therapy: innovative approaches currently under clinical investigation
Prognosis and Quality of Life
The prognosis depends significantly on the type and severity of the hemoglobinopathy. Mild forms are often asymptomatic and require little or no treatment. Severe forms require close medical monitoring to prevent complications such as organ damage or hemolytic crises. Advances in modern treatment are steadily improving life expectancy and quality of life for affected patients.
References
- World Health Organization (WHO): Haemoglobin disorders – Global epidemiology and public health implications. WHO Report, 2006.
- Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331-4336. DOI: 10.1182/blood-2010-01-251348.
- Thein SL. Molecular basis of beta thalassemia and potential therapeutic targets. Blood Cells Mol Dis. 2018;70:54-65. DOI: 10.1016/j.bcmd.2017.06.001.
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