Thalassemia, Symptoms, Causes, and Treatment:

Thalassemia is a genetic disorder, transferred from parents to children. Furthermore, it is a blood disorder in which the patient’s body is unable to produce enough proteins to produce hemoglobin.

Hemoglobin is a part of red blood cells, which carry oxygen to body cells. However, in this disease, there is a decreased level of hemoglobin, which leads to life-threatening conditions at a later age or when a child is younger. However, in severe cases, it also affects physical growth.

Thalassemia has two types: beta- and Alpha.

Alpha Thalassemia:

In this type, the body is unable to produce enough amounts of alpha proteins called alpha globin, which are building blocks for Hemoglobin. This type is usually treated with iron supplements.

Types of alpha thalassemia:

The following are the types.

• Alpha thalassemia Major: In this type, all four genes are missing. Babies with this type die before they are born.
• Silent Alpha thalassemia carrier: This type shows no symptoms and could be a carrier for the next generation. In this type, one gene is missing.
• Hemoglobin H Disease: In this type, three genes are missing. However, could have severe signs and symptoms and need medical attention to manage symptoms.
• Alpha thalassemia carrier: In this type, two genes are missing.  In this type, patients may have mild anemia, activity intolerance, and fatigue. There is a greater chance of having a baby with alpha thalassemia major.

Beta Thalassemia

In this type, there are missing genes called beta-globin, responsible for producing hemoglobin.

Beta thalassemia is further divided into the following types:

• Thalassemia Major: This type is also called beta thalassemia (Cooley’s anemia). In this type, there is a severe drop in hemoglobin, and the child becomes symptomatic and needs treatment. This is a severe type of thalassemia. There are two defective genes.

• Thalassemia Intermedia: This form falls between major and minor. This form also needs transfusion, but it is not as frequent as thalassemia major.

• Thalassemia Minor: In this type, there is a minor hemoglobin drop, and only the gene has been defective. Children are usually asymptomatic and do not need medical treatment. However, a child could be a carrier for the next generation.

• Thalassemia Minima: This type has only one defective gene. The patient is asymptomatic and does not require treatment. However, a child could be a disease carrier for the next generation, the same as thalassemia minor.

Signs and Symptoms:

The following are some signs and symptoms.

• Paler skin: The patient looks pale due to low levels of red blood cells and hemoglobin.
• Lethargy and feeling weakness. The child cannot perform energy-consuming activities like swimming, running, or outdoor sports patient will feel fatigued soon.
• Difficulty in breathing/shortness of breath: As the function of hemoglobin is to carry oxygen to cells of the body low level of hemoglobin causes difficulty in breathing and shortness of breath while doing activities.
• Delay Healing of Wounds: Blood contains nutrition and oxygen, and helps in fast metabolism. Low levels of hemoglobin lead to delays in the healing of wounds.
• Growth Retardation: There are growth issues in children.
• Malformation of skull bones.

What are the causes of thalassemia?

  Thalasemia occurs when the parents are carriers of the disease. If one of the parents is a carrier of the disease, the offspring can be a carrier for thalassemia minor. But when both of the parents are carriers, than their is cahnces that the children are thalasemia major . In most cases, the first child of the 3rd child is at risk of getting the disease.       

As discussed above, it is a genetic disorder that is transferred from parents to children. It occurs when both of the parents are carriers of thalassemia minor; one or more children will be Thalassemia Major. However, if one parent has the gene of thalassemia minor, then one or more children will be Thalassemia Minor.

• Family Marriages.
• The cause of it is family marriages, as genetic mutation runs in families. Furthermore, parents don’t need to belong to the same family. However, it also happens in couples who do not belong to the same family important factor is that both parents contain genes of thalassemia minor. However, genetic testing before marriage is important to avoid disease in children.

Diagnostic tests or how to diagnose?

 The following are the diagnostic tests to rule out.

• Complete blood count (CBC): Complete blood count shows a decreased number of Red blood cells and decreased levels of hemoglobin and some other cells.
• Hemoglobin Electrophoresis: In this test, hemoglobin is tested in detail to find defective or missing proteins, which are responsible for making the hemoglobin molecule.

Treatment and Management.

 Management consists of Supportive and curative treatment.

Supportive treatment:

In supportive treatment, transfusion of packed red blood cells is used to maintain hemoglobin levels. Transfusion depends upon the severity of the disease.

Splenectomy: In some cases, the spleen needs to be removed due to severe damage to red cells or due to iron overload.

Curative treatment: Allogeneic Bone marrow transplant is a curative option for thalassemia major. Furthermore, a fully HLA-matched sibling or matched unrelated transplant is preferred for successful transplant results. A half HLA-matched transplant also have same results once the transplanted cells are implanted.

Frequent Transfusion Complications:

Frequent transfusions and admissions to the hospital lead to iron overload and blood-borne infections such as Hepatitis B and C, if not screened properly. In case of iron overload, iron deposition in the liver, spleen, and other tissues further needs a treatment called iron chelation therapy to decrease the amount of iron in the body.

How to prevent thalassemia major?

 The following is the only option to prevent the disease.

• Pre-marital Testing /Screening of a Couple

Thalassemia is a genetic condition that can only be prevented if couples are tested for the minor type before getting married.

However, this is only possible if the public is educated about the risk factors and causes of the disorder. It would be helpful to have awareness sessions about thalassemia in colleges and universities so that the younger generation can be informed about it.