WHAT IS HEMOGLOBINOPATHY
HEMOGLOBINOPATHY • It’s a blood disorder that is caused by a
genetically determined change in the molecular structure of haemoglobin.
• Defects in these genes can produce
abnormal haemoglobins and anaemia
• The most important of the
hemoglobinopathies are sickle-cell anaemia and thalassemia.
• Hemoglobinopathies are most common
in populations from Africa and Southeast Asia
• Symptoms of Hemoglobinopathies are: – Vague pain – Jaundice – Enlarged spleen – Mild to moderate anaemia – Haemorrhaging.
TREATMENT FOR HEMOGLOBINOPATHY • Treatment for hemoglobinopathy
includes:
– Periodic blood transfusions – Iron chelation therapy
• Will use drugs to treat the symptoms of
sickle-cell disease include: – Analgesics, – Antibiotics, – ACE inhibitors – Hydroxyurea.
PREVENTION FOR HEMOGLOBINOPATHY • Genetic counselling can be provided to
at-risk couples.
• Should be tested to determine if the
couple is at risk of having a child with clinically significant disease.
• Chorionic villus sampling and
amniocentesis also can be used to diagnosis at-risk fetuses.
CONCLUSION • Reputed laboratories are providing
hemoglobinopathy lab test which include a simple blood test
• Blood test evaluation is a group of tests
that determines the presence and relative amounts of abnormal forms of haemoglobin in order to diagnose a haemoglobin disorder.
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