Thalassemia disorder results from a defect in the gene that controls the production of hemoglobin, the protein that carries oxygen throughout the body.
Thalassemia is an inherited blood disorder that causes red blood cells to be produced too slowly or not at all. It affects about 1 out of every 2,000 babies born. Thalassemia can cause serious complications, including anemia, heart disease, liver problems, and bone deformities.
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What is thalassemia disorder?
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of haemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.
The disorder results in excessive destruction of red blood cells, which leads to anemia. Anaemia is a condition in which your body doesn’t have enough healthy red blood cells.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.
Types of Thalassemia Disorder
There are three main types of thalassemia (and four subtypes):
- Beta thalassemia, which includes the subtypes major and intermedia
Beta thalassemia occurs when your body can’t produce beta-globin. Two genes, one from each parent, are inherited to make beta-globin. This type of thalassemia comes in two serious subtypes: thalassemia major (Cooley’s anaemia) and thalassemia intermedia.
- Alpha thalassemia, which includes the subtypes haemoglobin H and hydrops fetalis
Alpha thalassemia occurs when the body can’t make alpha-globin. In order to make alpha-globin, you need to have four genes, two from each parent.
This type of thalassemia also has two serious types: haemoglobin H disease and hydrops fetalis.
- Thalassemia minor. People with thalassemia minor rarely have any symptoms. If they do, it’s likely to be minor anaemia. The condition is classified as either alpha or beta-thalassemia minor. In alpha minor cases, two genes are missing. In beta minor, one gene is missing.
The lack of visible symptoms can make thalassemia minor difficult to detect. It’s important to get tested if one of your parents or a relative has the disease.
Thalassemia is not a disease
Thalassemia is an inherited blood disorder that causes red blood cells to be produced too slowly or not at all.
The human body creates three types of blood cells:
- red blood cells
- white blood cells
Red blood cells contain haemoglobin, an iron-rich protein that distributes oxygen from the lungs to all parts of the body. Apart from oxygen-haemoglobin also carries carbon dioxide from the body to the lungs, from where it is exhaled.
Haemoglobin contains two kinds of protein chains:
- alpha globin
- beta globin
If your protein chains are not normal, or your body does not create enough of these protein chains, then production of haemoglobin and red blood cells is affected, which affects the distribution of oxygen in the body.
It is the genes that we inherit that controls how the body produces haemoglobin protein chains. Thalassemias can occur when these genes are abnormal or missing.
What are the noticeable symptoms of thalassemia disorder?
The symptoms of thalassemia can vary. Some of the most common ones include:
- bone deformities, especially in the face
- dark urine
- delayed growth and development
- excessive tiredness and fatigue
- yellow or pale skin
Not everyone has visible symptoms of thalassemia. Signs of the disorder also show up later in childhood or adolescence.
What is the treatment for thalassemia disorder?
The treatment for thalassemia depends on the type and severity of the disease involved. Your doctor will give you a course of treatment that will work best for your particular case.
Some treatments include:
- blood transfusions
- bone marrow transplant
- medications and supplements
- possible surgery to remove the spleen or gallbladder
Thalassemia disorder in pregnancy
Thalassemia also brings up different concerns related to pregnancy. The disorder affects reproductive organ development. Because of this, women with thalassemia may encounter fertility difficulties.
Pregnancy carries the following risk factors in women with thalassemia:
- a higher risk for infections
- gestational diabetes
- heart problems
- hypothyroidism, or low thyroid
- increased number of blood transfusions
- low bone density
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Which lab test do for thalassemia disorder?
- A complete blood count (CBC): This can check levels of haemoglobin and the level and size of red blood cells.
- A reticulocyte count: This measures how fast red blood cells, or reticulocytes, are produced and released by the bone marrow. Reticulocytes usually spend around 2 days in the bloodstream before developing into mature red blood cells. Between, 1 and 2 percent of a healthy person’s red blood cells are reticulocytes.
- Iron: This will help the doctor determine the cause of anaemia, whether thalassemia or iron deficiency. In thalassemia, iron deficiency is not the cause.
- Genetic testing: DNA analysis will show whether a person has thalassemia or faulty genes.
- Prenatal testing: This can show whether a fetus has thalassemia, and how severe it might be.
- Haemoglobin electrophoresis (Hemoglobinopathy (Hb) evaluation). This test assesses the type and relative amounts of haemoglobin present in red blood cells. Haemoglobin A (Hb A), composed of both alpha and beta globin, is the type of haemoglobin that normally makes up 95% to 98% of haemoglobin in adults. Hemoglobin A2 (HbA2) is usually 2% to 3% of haemoglobin in adults, while haemoglobin F usually makes up less than 2%.
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