(D56.1) Beta thalassaemia

More details coming soon

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

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

10 074

Men receive the diagnosis beta thalassaemia

1 039 (10.3 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
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10 360

Women receive the diagnosis beta thalassaemia

1 968 (19.0 %)

Died from this diagnosis.

Risk Group for the Disease beta 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 beta thalassaemia

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

Beta thalassaemia is an inherited blood disorder caused by a genetic mutation in the gene responsible for the production of beta-globin, a component of hemoglobin. this mutation leads to decreased production of beta-globin, resulting in anemia, fatigue, and other symptoms.

What happens during the disease - beta thalassaemia

Beta thalassaemia is a genetic disorder caused by mutations in the beta-globin gene, which is responsible for producing the beta-globin protein. these mutations can lead to the production of abnormal or insufficient beta-globin proteins, resulting in a reduced number of healthy red blood cells. this decrease in red blood cells results in anemia, which can cause fatigue, shortness of breath, pale skin, and other symptoms.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Complete Blood Count (CBC)
  • Hemoglobin Electrophoresis
  • Hemoglobin A2 Test
  • Hemoglobin F Test
  • Osmotic Fragility Test
  • Iron Studies
  • Molecular Genetic Testing
Additions:
  • Ferritin Test
  • Total Iron Binding Capacity (TIBC) Test

Treatment and Medical Assistance

Main Goal: Treating the disease Beta thalassaemia
  • Regular blood transfusions
  • Iron chelation therapy
  • Vitamin B12 injections
  • Folic acid supplementation
  • Antibiotic therapy
  • Stem cell transplantation
  • Gene therapy
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7 Days of Hospitalization Required
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83 Hours Required for Outpatient Treatment

Beta thalassaemia - Prevention

Beta thalassaemia can be prevented by ensuring that both parents are tested for the condition prior to conception, and by encouraging pregnant women to have prenatal screening tests to check for the condition. additionally, people should be aware of their family history and the risk factors associated with the condition.