Haemoglobinopathy

What is 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:

 

An image of red blood cells circulating in the blood. These are affected by haemoglobinopathies.

 

Prognosis of the condition

 

At present, there is no cure for haemoglobinopathies. However, there are treatments that can relieve symptoms.

 

Symptoms of haemoglobinopathy

 

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.

 

Medical tests to diagnose haemoglobinopathy

 

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.

 

What are the causes?

 

Haemoglobinopathies are almost always genetically inherited. Many blood-affecting genetic mutations can cause different types of haemoglobinopathy.

 

Can it be prevented?

 

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.

 

Treatments for haemoglobinopathy

 

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.

 

Which type of specialist treats haemoglobinopathy?

 

A haematologist (a blood specialist) and internal medicine specialists can provide management for haemoglobinopathy disorders.

 03-07-2024
Top Doctors

Haemoglobinopathy

Return

Dr Emmanuel Ako - Cardiology

Created on: 03-31-2020

Updated on: 03-07-2024

Edited by: Sophie Kennedy

What is 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:

 

An image of red blood cells circulating in the blood. These are affected by haemoglobinopathies.

 

Prognosis of the condition

 

At present, there is no cure for haemoglobinopathies. However, there are treatments that can relieve symptoms.

 

Symptoms of haemoglobinopathy

 

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.

 

Medical tests to diagnose haemoglobinopathy

 

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.

 

What are the causes?

 

Haemoglobinopathies are almost always genetically inherited. Many blood-affecting genetic mutations can cause different types of haemoglobinopathy.

 

Can it be prevented?

 

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.

 

Treatments for haemoglobinopathy

 

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.

 

Which type of specialist treats haemoglobinopathy?

 

A haematologist (a blood specialist) and internal medicine specialists can provide management for haemoglobinopathy disorders.

Experts in Haemoglobinopathy

Related clinics

Dr Emmanuel Ako

Cardiology


Book online
This website uses our own and third-party Cookies to compile information with the aim of improving our services, to show you advertising related to your preferences as well analysing your browsing habits. You can change your settings HERE.
Reject
Only essential
Accept all
Custom configuration | Cookies Policy | Privacy Policy