- What is haemoglobinopathy?
- Prognosis of the condition
- Symptoms of haemoglobinopathy
- Medical tests to diagnose haemoglobinopathy
- What are the causes?
- Can it be prevented?
- Treatments for haemoglobinopathy
- Which type of specialist treats haemoglobinopathy?
Haemoglobinopathy is a clinical term that describes a group of blood disorders that affect red blood cells. Blood cells contain haemoglobin, a protein that carries oxygen around the body and removes carbon dioxide. A haemoglobinopathy disorder can cause this protein to be abnormally structured or it results in an abnormal level of the protein’s production.
Common types are:
At present, there is no cure for haemoglobinopathies. However, there are treatments that can relieve symptoms.
In very serious cases of a haemoglobinopathy, patients may experience the following symptoms:
The insufficient production of haemoglobin or the inadequate structure results in poor functioning of red blood cells. As a consequence, anaemia can occur.
After an abnormal result from a blood smear or complete blood count, a specialist may recommend a haemoglobinopathy evaluation. In this evaluation, a pathologist who has expertise in haematology, examines the results of several tests. These tests provide information regarding the amount of blood cells and quantity of abnormal blood cells in the patient.
Haemoglobinopathies are almost always genetically inherited. Many blood-affecting genetic mutations can cause different types of haemoglobinopathy.
As it is genetically inherited, it cannot be prevented. The risk of a child inheriting the condition can be predicted by evaluating with genes the parents carry.
Patients with haemoglobinopathies should receive regular specialist reviews and care. Treatment options and recommendations differ between types of condition.
Bone marrow transplants can provide a cure for haemoglobinopathy. This does not change the genetics of the patient, but it can relieve them of symptoms. This procedure does have side-effects such as infertility, however, and your specialist should describe every treatment and its outcome with you.
A haematologist (a blood specialist) can provide management for haemoglobinopathy disorders.