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(D56.4) Hereditary persistence of fetal haemoglobin [hpfh]
More details coming soon
20 434 in individuals diagnosis hereditary persistence of fetal haemoglobin [hpfh] confirmed
3 007 deaths with diagnosis hereditary persistence of fetal haemoglobin [hpfh]
15% mortality rate associated with the disease hereditary persistence of fetal haemoglobin [hpfh]
Diagnosis hereditary persistence of fetal haemoglobin [hpfh] is diagnosed Women are 1.40% more likely than Men
10 074
Men receive the diagnosis hereditary persistence of fetal haemoglobin [hpfh]
1 039 (10.3 %)Died from this diagnosis.
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10 360
Women receive the diagnosis hereditary persistence of fetal haemoglobin [hpfh]
1 968 (19.0 %)Died from this diagnosis.
Risk Group for the Disease hereditary persistence of fetal haemoglobin [hpfh] - Men aged 30-34 and Women aged 5-9
In Men diagnosis is most often set at age 0-19, 25-54, 60-64, 75-89
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+
In Women diagnosis is most often set at age 0-39, 45-69, 75-89
Disease Features hereditary persistence of fetal haemoglobin [hpfh]
Absence or low individual and public risk
Hereditary persistence of fetal haemoglobin [hpfh] - what does this mean
Hereditary persistence of fetal haemoglobin (hpfh) is a genetic disorder caused by mutations in the β-globin gene that prevent the normal switch from fetal haemoglobin to adult haemoglobin at birth. this results in the persistent production of fetal haemoglobin, leading to anemia and other complications.
What happens during the disease - hereditary persistence of fetal haemoglobin [hpfh]
Hpfh is a genetic disorder caused by a mutation in the beta-globin gene. this mutation results in the production of an abnormal version of the beta-globin protein, which binds to oxygen less effectively than the normal version. this leads to a decrease in the amount of oxygen that can be transported in the bloodstream, resulting in the symptoms associated with hpfh.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete Blood Count (CBC)
- Hemoglobin Electrophoresis
- DNA Testing
- Genetic Counseling
- Prenatal Testing
- Hemoglobin A2 Testing
- Hemoglobin F Testing
Treatment and Medical Assistance
Main goal of the treatment: To reduce the level of fetal haemoglobin in the patient's blood.
- Prescribe medications to reduce the production of fetal haemoglobin.
- Administer regular blood transfusions to reduce the level of fetal haemoglobin.
- Monitor the patient's blood levels of fetal haemoglobin.
- Provide dietary and lifestyle advice to reduce the production of fetal haemoglobin.
- Provide psychological support to the patient and their family.
- Refer the patient to a specialist for further treatment if necessary.
7 Days of Hospitalization Required
83 Hours Required for Outpatient Treatment
Hereditary persistence of fetal haemoglobin [hpfh] - Prevention
Hpfh can be prevented by avoiding the transmission of the genetic mutation that causes the disease through genetic counseling and testing prior to pregnancy. additionally, avoiding exposure to environmental triggers such as smoking and alcohol can help reduce the risk of developing hpfh.