(P61.4) Other congenital anaemias, not elsewhere classified

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325 367 in individuals diagnosis other congenital anaemias, not elsewhere classified confirmed
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3 002 deaths with diagnosis other congenital anaemias, not elsewhere classified
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1% mortality rate associated with the disease other congenital anaemias, not elsewhere classified

Diagnosis other congenital anaemias, not elsewhere classified is diagnosed Men are 12.21% more likely than Women

182 547

Men receive the diagnosis other congenital anaemias, not elsewhere classified

1 628 (0.9 %)

Died from this diagnosis.

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95
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142 820

Women receive the diagnosis other congenital anaemias, not elsewhere classified

1 374 (1.0 %)

Died from this diagnosis.

Risk Group for the Disease other congenital anaemias, not elsewhere classified - Men and Women aged 0

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In Men diagnosis is most often set at age 0-5
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Less common in men the disease occurs at Age 5-95+Less common in women the disease occurs at Age 5-29, 35-49, 55-95+
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In Women diagnosis is most often set at age 0-5, 30-34, 50-54

Disease Features other congenital anaemias, not elsewhere classified

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Absence or low individual and public risk
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Other congenital anaemias, not elsewhere classified - what does this mean

Other congenital anaemias, not elsewhere classified, occur when there is an inherited defect in the production or function of red blood cells, leading to a decrease in the number of circulating red blood cells and a subsequent decrease in the oxygen-carrying capacity of the blood.

What happens during the disease - other congenital anaemias, not elsewhere classified

Other congenital anaemias, not elsewhere classified, are a group of anaemias caused by genetic defects that affect the production of red blood cells in the bone marrow. these defects can be caused by mutations in genes involved in the production of haemoglobin, deficiencies in the production of haemoglobin, or an impaired ability of red blood cells to transport oxygen. the result of these defects is a decrease in the number and quality of red blood cells, leading to anaemia.

Clinical Pattern

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How does a doctor diagnose

  • Complete blood count (CBC)
  • Blood smear examination
  • Bone marrow aspiration and biopsy
  • Genetic testing
  • Serum ferritin level
  • Serum iron level
  • Serum total iron-binding capacity (TIBC)
  • Urine hemosiderin
  • Haptoglobin level
  • Liver function tests
  • Thyroid function tests
  • Serum vitamin B12 and folate levels
  • Fasting blood glucose
  • Serum copper and ceruloplasmin levels
  • Serum zinc level

Treatment and Medical Assistance

Main goal of the treatment: To reduce the symptoms of the disease and improve the quality of life of the patient.
  • Regular monitoring of blood count and iron levels
  • Iron and folic acid supplementation
  • Blood transfusions as needed
  • Bone marrow transplantation
  • Gene therapy
  • Erythropoietin therapy
  • Enzyme replacement therapy
  • Stem cell transplantation
  • Nutritional and lifestyle modifications
  • Avoiding drugs that can cause anaemia
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11 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Other congenital anaemias, not elsewhere classified - Prevention

Prevention of other congenital anaemias, not elsewhere classified can be achieved through proper prenatal care, including avoiding exposure to environmental toxins, taking a balanced diet, and avoiding alcohol and smoking during pregnancy. genetic counselling prior to conception can also help identify any potential risk factors and help reduce the risk of the baby developing the condition.