(D56.0) Alpha thalassaemia

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20 434 in individuals diagnosis alpha thalassaemia confirmed
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3 007 deaths with diagnosis alpha thalassaemia
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15% mortality rate associated with the disease alpha thalassaemia

Diagnosis alpha thalassaemia is diagnosed Women are 1.40% more likely than Men

10 074

Men receive the diagnosis alpha thalassaemia

1 039 (10.3 %)

Died from this diagnosis.

100
95
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75
70
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55
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10 360

Women receive the diagnosis alpha thalassaemia

1 968 (19.0 %)

Died from this diagnosis.

Risk Group for the Disease alpha thalassaemia - Men aged 30-34 and Women aged 5-9

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In Men diagnosis is most often set at age 0-19, 25-54, 60-64, 75-89
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Less common in men the disease occurs at Age 20-24, 55-59, 65-74, 90-95+Less common in women the disease occurs at Age 40-44, 70-74, 90-95+
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In Women diagnosis is most often set at age 0-39, 45-69, 75-89

Disease Features alpha thalassaemia

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Absence or low individual and public risk
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Alpha thalassaemia - what does this mean

Alpha thalassaemia is a genetic disorder caused by a mutation in the haemoglobin genes which results in reduced or absent production of alpha globin protein, leading to a decrease in the production of functional haemoglobin. this decrease in haemoglobin leads to a wide range of health issues, including anaemia, delayed growth and development, and an increased risk of infection.

What happens during the disease - alpha thalassaemia

Alpha thalassaemia is a genetic disorder caused by mutations in the hba1 and hba2 genes, which code for the alpha globin subunits of hemoglobin. these mutations lead to reduced or absent production of alpha globin, resulting in an imbalance of globin chains and an insufficient amount of functional hemoglobin. this leads to an impaired ability of red blood cells to carry oxygen throughout the body, resulting in anemia and other symptoms.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Complete Blood Count (CBC)
  • Hemoglobin Electrophoresis
  • Red Cell Indices
  • Osmotic Fragility Test
  • Hemoglobin A2 and F Quantitation
  • DNA Analysis

Treatment and Medical Assistance

Main goal of the treatment: To manage the symptoms of Alpha thalassaemia and improve the quality of life of the patient.
  • Regular monitoring of the patient's haemoglobin levels.
  • Blood transfusions to maintain haemoglobin levels.
  • Iron chelation therapy to reduce the amount of iron in the body.
  • Folic acid supplements to reduce the risk of anaemia.
  • Antibiotics to prevent infections.
  • Vaccinations to prevent diseases.
  • Counselling to provide emotional support.
  • Regular exercise to maintain physical fitness.
  • A healthy diet to ensure proper nutrition.
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7 Days of Hospitalization Required
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83 Hours Required for Outpatient Treatment

Alpha thalassaemia - Prevention

Alpha thalassaemia can be prevented through pre-marital screening and genetic counselling for couples who are at risk of having a child with the disorder. couples can also opt for prenatal diagnosis if they are found to be at risk. counselling can also help individuals and families understand the risks and implications of having a child with alpha thalassaemia.