Hemoglobinopathy & Other Anemias

What is

Hemoglobinopathy

Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. It is passed down through families (inherited). A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin. The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae.

Type of Hemoglobinopathy


1. Thalassemia

Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.

If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions. Transfusion depends thalassemia major (might required regular blood transfusion and optimal supportive care.) You can take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly. The only curative option for thalassemia major is Hematopoietic Stem Cell Transplant. Best age for HSCT in thalassemia major is below 7 years. With improved care the success rate of HSCT has gone about 90%.

There are two main types of thalassemia:

  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.
  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
  • E-beta Thalassemia.

2. Sickle cell anemia

Sickle cell anemia is one of a group of disorders known as sickle cell disease. Sickle cell anemia is an inherited red blood cell disorder in which there aren’t enough healthy red blood cells to carry oxygen throughout your body.

Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood cells are shaped like sickles or crescent moons. These rigid, sticky cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

Sickle cell disease can be permanently cure with Hematopoietic Stem Cell Transplant. We have performed more than 100 successful HSCTs for Sickle Cell Disease.

3. Autoimmune Hemolytic Anemia (AIHA)

Autoimmune hemolytic anemia is a rare red blood cell disorder and an immune disorder. It happens when the body produces antibodies that destroy the red blood cells.

Autoimmune hemolytic anemia (AIHA), or immune hemolytic anemia, happens when the immune system does not work properly. It mistakes red blood cells for unwanted substances and attacks them, causing them to die early. This leaves a person without enough red blood cells.

4. Iron deficiency anemia (IDA)

Iron deficiency anemia is a common type of anemia — a condition in which blood lacks adequate healthy red blood cells. Red blood cells carry oxygen to the body’s tissues.

As the name implies, iron deficiency anemia is due to insufficient iron. Without enough iron, your body can’t produce enough of a substance in red blood cells that enables them to carry oxygen (hemoglobin). As a result, iron deficiency anemia may leave you tired and short of breath.

You can usually correct iron deficiency anemia with iron supplementation. Sometimes additional tests or treatments for iron deficiency anemia are necessary, especially if your doctor suspects that you’re bleeding internally.

5. Macrocytic Anemia

Macrocytic anemia is a type of anemia that causes unusually large red blood cells. Like other types of anemia, macrocytic anemia means that the red blood cells also have low hemoglobin.

Red blood cells larger than 100 fL are considered macrocytic. When the cells grow too large, there are fewer of them than there needs to be and they carry less hemoglobin. This means the blood is not as oxygen-rich as it should be. Low blood oxygen can cause a range of symptoms and health problems.

One of the most common types of macrocytic anemia is megaloblastic macrocytic anemia. This happens when red blood cells produce DNA too slowly to divide.

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