Definition

What is Hereditary (Congenital) Hemolytic Anemia?

Hereditary Hemolytic Anemia comprises a group of disorders in which red blood cells of affected individuals exhibit a phenomenon known as “hemolysis” which means they break prematurely, leading to anemia.

There are several different types of hereditary hemolytic anemia, which vary in severity, some causing many problems, and others almost none.

This article deals with three types of hereditary hemolytic anemia: spherocytosis,

elliptocytosis and the G6PD deficiency.

Spherocytosis

It is a hereditary familiar disorder, caused by defects in the erythrocyte membrane.

In Hereditary spherocytosis there is a change in the wall of the red blood cell. The result of this defect is that the globule acquires a spherical shape (spherocytic), different from that normally present (biconcave). These spherical cells are more fragile and not so deformable, suffering and being caught early destruction by the spleen, which leads to anemia. The spherocytosis is also called “Mycrospherocytosis” because the red cells in this disease are smaller than normal.

Elliptocytosis

Elliptocytosis or hereditary ovalocytosis is a rare variant of hereditary spherocytosis, mainly found in Southeast Asian populations.

G6PD deficiency

People with G6PD deficiency, as the name implies, doesn’t have enough of the enzyme glucose-6-phosphate dehydrogenase. It is necessary to know the characteristics of this enzyme in order to better understand the disease.

How common is Hereditary (Congenital) Hemolytic Anemia?

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Hereditary (Congenital) Hemolytic Anemia?

Spherocytosis

The severity of symptoms varies considerably. Some patients may have no symptoms, until in some individuals anemia can be mild or severe.

Chronic destruction of blood cells can cause jaundice (yellow skin and eyes) and formation of gallstones.

Elliptocytosis

In most cases there is haemolysis (destruction of blood cells) that is well-compensated mild, with little or no anemia. However, in case there may be more severe anemia, enlarged spleen and gall stones.

G6PD deficiency

Usually, the carrier of G6PD deficiency is asymptomatic until their red blood cells are exposed to certain trigger such as medications that promote the oxidation and can cause damage and anemia in people with G6PD deficiency, oxidizing substances such as naphthalene and dyes, infections  and its treatments.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Hereditary (Congenital) Hemolytic Anemia?

Spherocytosis

It is a hereditary familiar disorder, caused by defects in the erythrocyte membrane. This occurs when one parent carries the gene and passes it to his son. Another possibility is when a genetic change occurs (mutation) that arises when the baby is being formed, causing a defect in the wall of red blood cells. In this case, neither parent is a carrier of the gene that transmitted the disease.

Elliptocytosis

Genetic background is similar to that of the spherocytosis, may also be new cases even without the presence of disease in parents.

G6PD deficiency

G6PD or Glucose 6-Phosphate Dehydrogenase is one of many enzymes that

help the chemical changes that turn sugar for energy. G6PD protects red blood cells, making them resistant to certain types of aggression. Among those leading the assault is called oxidation.

G6PD protects red blood cells, making them resistant to certain types of aggression, especially oxidation. Oxidation can damage vital structures in red blood cells, like hemoglobin, changing its liquid to solid form, creating obstacles in the circulation and oxygen transportation. The greatest consequence of oxidation is the fragmentation of red blood cells. When too many red blood cells are destroyed, the person develops anemia. Anemia is a consequence of destruction of many red blood cells.

Risk factors

What increases my risk for Hereditary (Congenital) Hemolytic Anemia?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Hereditary (Congenital) Hemolytic Anemia diagnosed?

Spherocytosis and Elliptocytosis

Hereditary spherocytosis or hereditary elliptocytosis is suspected in patients with unexplained hemolysis (as suggested by the presence of anemia and reticulocytosis), particularly if splenomegaly, a family history of similar manifestations, or suggestive RBC indices are present.

In hereditary spherocytosis, because RBCs are spheroidal and the MCV is normal, the mean corpuscular diameter is below normal, and RBCs resemble microspherocytes. MCHC is increased. Reticulocytosis of 15 to 30% and leukocytosis are common. In hereditary elliptocytosis, the RBCs are typically elliptical or cigar-shaped; however, the clinical presentation is variable. Diagnosis is usually made by the presence of at least 60% elliptocytes on peripheral smear and a family history of similar disease.

If these disorders are suspected, the following tests are done:.

  • RBC osmotic fragility test, which mixes RBCs with varying concentrations of saline
  • RBC autohemolysis test, which measures the amount of spontaneous hemolysis occurring after 48 h of sterile incubation
  • Direct antiglobulin (direct Coombs) test, to rule out spherocytosis due to autoimmune hemolytic anemia

RBC fragility is characteristically increased, but in mild cases, it may be normal unless sterile defibrinated blood is first incubated at 37° C for 24 h. RBC autohemolysis is increased and can be corrected by the addition of glucose. The direct antiglobulin test results are negative.

G6PD deficiency

The diagnosis is suspected through the clinical presentation. In most cases it is undiagnosed

until a child develops symptoms. The diagnosis is done through a blood test for screening and

quantification of the enzyme.

How is Hereditary (Congenital) Hemolytic Anemia treated?

Splenectomy, after appropriate vaccination, is the only specific treatment for hereditary spherocytosis or hereditary elliptocytosis but is rarely needed. It is indicated in patients with symptomatic hemolysis or complications such as biliary colic or persistent aplastic crisis. If the gallbladder has stones or other evidence of cholestasis, it should be removed during splenectomy. Although spherocytosis persists after splenectomy, the cells survive longer in the circulation. Usually, symptoms resolve and anemia and reticulocytosis decrease. However, RBC fragility remains high.

There is no treatment yet for this G6PD deficiency. Fortunately, the disease causes no harm to people, provided they are careful about exposure to the phenomena described above.

Patients with G6PD deficiency should keep their physicians informed of this fact so that they can avoid prescribing medications that cause the problem.

A very useful measure is to keep close to their documents and personal belongings, a card notice of this anomaly. This card is intended to inform in case of accident, that the bearer can not use certain medicines, besides the identification of the anomaly itself.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Hereditary (Congenital) Hemolytic Anemia?

The following lifestyles and home remedies might help you cope with Hereditary (Congenital) Hemolytic Anemia:

  • Eat a vitamin-rich diet that includes iron, folate, vitamin B12, vitamin C,
  • Talk to your doctor about getting a multivitamin
  • Prevent malaria
  • Consider genetic counseling

If you have any questions, please consult with your doctor to better understand the best solution for you.

 

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: August 23, 2018 | Last Modified: August 23, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.