Thalassemia: Types, Risk Factors, Causes, Effect On Pregnancy And Treatment

Thalassemia Types Risk Factors Causes Effect On Pregnancy And Treatment.

Main points For Thalassemia Disease Condition.

Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin.

If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

The three main forms of thalassemia are alpha thalassemia, beta thalassemia, and thalassemia minor.

The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, 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.

Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected.

These disorders can result in:

Bone deformities

enlarged spleen

heart problems

growth and developmental delays in children.

Types of Thalassemia.

There are three main types of thalassemia (and four subtypes):

beta thalassemia, which includes the subtypes major and intermedia

alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis

thalassemia minor

All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.

Beta thalassemia

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 anemia) and thalassemia intermedia.

Thalassemia majoris the most severe form of beta thalassemia. It develops when beta globin genes are missing. The symptoms of thalassemia major generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include:

fussiness

paleness

frequent infections

a poor appetite

failure to thrive

jaundice, which is a yellowing of the skin or the whites of the eyes

enlarged organs

This form of thalassemia is usually so severe that it requires regular blood transfusions.

Thalassemia intermediais a less severe form. It develops because of alterations in both beta globin genes. People with thalassemia intermedia don’t need blood transfusions.

Alpha thalassemia

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: hemoglobin H disease and hydrops fetalis.

Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes. This disease can lead to bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, hemoglobin H disease can cause:

jaundice

an extremely enlarged spleen

malnourishment.

Hydrops fetalisis an extremely severe form of thalassemia that occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born. This condition develops when all four alpha globin genes are altered or missing.

Thalassemia minor

People with thalassemia minor don’t usually have any symptoms. If they do, it’s likely to be minor anemia. 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 some form of the diseas

What causes Thalassemia?

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.

If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.

If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

Symptoms of Thalassemia.

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 tend to show up later in childhood or adolescence.

Diagnosis of Thalassemia.

If your doctor is trying to diagnose thalassemia, they’ll likely take a blood sample. They’ll send this sample to a lab to be tested for anemia and abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped. Abnormally shaped red blood cells are a sign of thalassemia. The lab technician may also perform a test known as hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing them to identify the abnormal type.

Depending on the type and severity of the thalassemia, a physical examination might also help your doctor make a diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin disease.

Effects of Thalassemia 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.

To ensure the health of both you and your baby, it’s important to plan ahead of time as much as possible. If you want to have a baby, discuss this with your doctor to make sure that you’re in the best health possible. Your iron levels will need to be carefully monitored. Preexisting issues with major organs are also considered.

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.

Treatment options for Thalassemia

The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.

Some of the treatments include:

blood transfusions

bone marrow transplant

medications and supplements

possible surgery to remove the spleen or gallbladder

Your doctor may instruct you not to take vitamins or supplements containing iron. This is especially true if you need blood transfusions. People who receive blood transfusions receive extra iron that the body can’t easily get rid of. Iron can build up in tissues, which can be potentially fatal.

If you’re receiving a blood transfusion, you may also need chelation therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.

Sources: Patrikat Softech.