GRANULOMATOUS AMEBIC ENCEPHALITIS (GAE)

Hemoglobinopathies

Overview and Facts

Hemoglobinopathies is a term for blood disorders that affect the number and shape of the red blood cells. These includes thalassemia and sickle cell anemia. Hemoglobinopathies is a type of defect that results from abnormal structures of the hemoglobin molecule. Hemoglobin is created by genes that control the appearance of the hemoglobin and anemia.

Every cell of the human body needs enough oxygen. Blood is the one that brings oxygen from our lungs to different parts of the body. The red blood cell is donut-shaped and round; it carries oxygen in the blood.

People with hemoglobinopathies doesn’t have enough red blood cells. When the body makes red blood cells that are sickle-shaped rather than round and donut- shaped, those sickle shaped cells do not last long as the normal red blood cells. This is the cause of hemoglobinopathies. Hemoglobin is a protein in the red blood cells that contains iron which is used to transport oxygen in the body. Red blood cells get their color from hemoglobin.

Structural defects in the hemoglobin molecule is brought about by the modification in the hemoglobin subunit chain alpha or beta due to mutation, which further changes the function of the hemoglobin molecule. The change in a single amino acid changes the behavior of the hemoglobin and this brings about disease.

Types and Symptoms

SYMPTOMS

These are the early signs and symptoms of hemoglobinopathies:

  • Sleeping longer or feeling drowsy
  • Tiredness
  • Shortness of breath
  • Cold hand or feet
  • Pale skin
  • Swelling or pain in the hands

Some may experience severe symptoms while others may have no symptoms.

Diagnosis & Medications

DIAGNOSIS

Diagnosis of hemoglobinopathies can be done with the following tests:

  • Complete blood count to detect hemoglobinopathies especially thalassemia
  • Special hematological tests

 

TREATMENT

Treatment for hemoglobinopathies may include the following:

  • Blood transfusion. People with hemoglobinopathies needs blood transfusion because of not having enough healthy red blood cells. In this method, blood from the healthy people is given to someone with a
  • Medication Some patients may need pain medications. These can be over-the-counter pain killers like acetaminophen.
  • Fluids.Patient needs plenty of fluids because dehydration increases symptoms.

If a person has a hemoglobinopathy, he or she may develop repeated infections, so the physician may prescribe antibiotics to treat the infection.

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