Thalassemia is a genetic disorder, transferred from parents to children. Furthermore, is it 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 for body cells. However, in this disease, there is a decreased level of hemoglobin leads to life-threatening conditions at a later age or when a child is getting younger. However, in severe cases, it affects physical growth also.
Thalassemia has two types beta- and Alpha.
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:
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 In this type there is a greater chance of having a baby with alpha thalassemia major.
In this type, there are missing genes called beta-globin responsible for the production of 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 of 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 is not as frequent as thalassemia major.
- Thalassemia Minor: In this type, there is a minor hemoglobin drop, and only the gene has defected. 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:
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 level of hemoglobin leads to delays in the healing of wounds.
- Growth Retardation: There are growth issues in children.
- Malformation of skull bones.
what are the causes?
One or both the parents are carriers of thalassemia Minor
As discussed above it is a genetic disorder that means transfers 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 families. Furthermore, it is not necessary that parents 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?
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.
Treatment and management.
Management consists of Supportive and curative treatment.
In supportive treatment, transfusion of packed red blood cells 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 a thalassemia major.
Frequent Transfusion Complications:
Frequent transfusions and admissions to the hospital lead to iron overload and blood-borne infections like 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 it?
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.