HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA (HNHA)

Hereditary Nonspherocytic Hemolytic Anemia (HNHA) is a group of inherited illnesses defined by the loss of red blood cells at an early age. Red blood cells transport oxygen to all parts of the body. Moreover, hemolytic anemia is characterized by the early decomposition of red blood cells (RBCs).

The term “nonspherocytic” is attributed to the idea that the red blood cells do not have the usual spherical shape of normal red blood cells, and hereditary refers to the fact that the illnesses are inherited. In addition, there are approximately 16 different diseases included in the classification of hereditary nonspherocytic hemolytic anemia.

However, they all have specific characteristics in common. Some people have symptoms from the moment they are born, while others do not begin to exhibit symptoms until they are adults.

SYMPTOMS

Those who suffer from hereditary nonspherocytic hemolytic anemia may exhibit symptoms such as the following:

  • jaundice
  • fatigue 
  • splenomegaly
  • liver enlargement

DIAGNOSIS

Bloodwork findings can be used to diagnose hereditary nonspherocytic hemolytic anemia (HNHA). A microscope examination of the membrane, or outer layer, of a red blood cell might reveal the kind of anemia a person has. Genetic testing can also assist in determining the specific type of anemia. 

Genetic testing is frequently performed as a multigene panel, a single test that may detect alterations in numerous genes. Genetic counseling can help you understand genetic testing alternatives, how the problem is inherited, and how it affects family members.

TREATMENT

Commonly Used Therapies

There are cases of hereditary nonspherocytic hemolytic anemia in which the symptoms are not severe; the patient does not require any therapy in particular. For others, replacing their red blood cells consistently requires regular blood transfusions. People with anemia should avoid taking any medications or eating foods that bring on their symptoms, such as antibiotics. 

The removal of the spleen is an option explored for some patients who have severe anemia. However, there is a risk of complications associated with splenectomy, and the procedure is not suitable for hereditary nonspherocytic hemolytic anemia.

Therapies That Are Still Under Investigation

Multiple forms of inherited anemia are now being investigated as potential candidates for stem cell treatment. Stem cells are a “baseline” cell type that has the potential to differentiate into any other kind of cell found in the body. However, the treatment of hereditary nonspherocytic hemolytic anemia with stem cells is unsuitable for all conditions.

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