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Congenital Hemolytic Anemia - A Type of Blood Disorder

Published on Mar 31, 2023   -  5 min read


Congenital hemolytic anemia is hereditary, including defects in erythrocyte membrane proteins, red cell enzymes, and erythropoiesis disorders.


Congenital hemolytic anemia (CHA) is a rare condition that affects newborn babies. A problem with the production of red blood cells in the body causes it. This article will explore congenital hemolytic anemia, its symptoms, diagnosis, and treatment options and also discusses how to provide care and support for those living with this condition.

What Is Hemolytic Anemia?

Congenital hemolytic anemia is a type of blood disorder in which the body's red blood cells are destroyed faster than they can be replaced. As a result, they decrease the number of circulating red blood cells and the oxygen the cells can carry. Many factors, including genetic abnormalities, autoimmune diseases, and infections, can cause congenital hemolytic anemia.

The destruction of red blood cells is known as hemolysis, which can lead to various symptoms depending on the severity of the condition. Common symptoms of congenital hemolytic anemia include fatigue, jaundice, shortness of breath, rapid heart rate, pale skin, dark urine, and abdominal pain. Left untreated can lead to life-threatening complications such as organ failure or stroke. Diagnosis for congenital hemolytic anemia typically involves blood tests and imaging studies. Treatment for this condition often involves medications to reduce the destruction of red blood cells, supportive therapies such as transfusions and blood transfusions, and lifestyle changes to help manage symptoms.

What Are the Causes of Congenital Hemolytic Anemia?

Congenital hemolytic anemia is caused by a genetic mutation that affects the body’s ability to produce healthy red blood cells. The exact cause of this genetic mutation is unknown. However, this mutation affects the production of hemoglobin, which is responsible for carrying oxygen throughout the body. Red blood cells cannot function properly without enough hemoglobin and are broken down prematurely. As a result, the body does not have enough healthy red blood cells to carry oxygen to tissues and organs.

There are several types of congenital hemolytic anemias, each with a different genetic mutation responsible for causing the condition. Some of the most common types include:

  • Hereditary Spherocytosis - It is caused by mutations in the gene responsible for producing proteins that maintain the shape of red blood cells.

  • Hereditary Elliptocytosis - It is caused by mutations in the gene that produce proteins that maintain the shape of red blood cells.

  • Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency - It is caused by mutations in the gene that produces the enzyme G6PD, which helps protect red blood cells from damage.

  • Thalassemia - It is caused by mutations in genes that produce proteins involved in the production of hemoglobin.

  • Pyruvate Kinase Deficiency - It is caused by gene mutations that produce an enzyme called pyruvate kinase, which helps convert energy from food into fuel for red blood cells.

What Are the Symptoms of Congenital Hemolytic Anemia?

Congenital hemolytic anemia (CHA) can present with a variety of symptoms. In the early stages, symptoms may be mild and go unnoticed. As the condition progresses, however, they may become more pronounced. Common symptoms include:

  • Shortness of breath.

  • Pallor or pale skin.

  • Weakness or fatigue.

  • Rapid heart rate.

  • Enlarged spleen or liver.

  • Easy bruising and excessive bleeding from minor cuts.

  • Dark urine or jaundice.

  • Fever or chills.

  • Loss of appetite.

  • Abdominal pain.

In addition, people with CHA may experience increased infections due to weakened immune systems. In severe cases, the person may experience organ failure or stroke. If any of these symptoms are present, it is important to seek medical attention. Other symptoms include fatigue, jaundice, headaches, and an enlarged spleen. People with CHA may also experience increased sensitivity to cold temperatures. Also, CHA can cause anemia, leading to a pale complexion, dizziness, and weakness. If one experiences any of these symptoms, getting tested for CHA as soon as possible is important.

What Is the Diagnosis of Congenital Hemolytic Anemia?

When diagnosing congenital hemolytic anemia, a physician typically looks for signs and symptoms that may indicate the condition. They include performing a physical examination and taking a medical history. The physician may also take a blood sample to determine if there are any abnormalities in the levels of red blood cells or hemoglobin. Other diagnostic tests may include a complete blood count (CBC), which looks at the size, shape, and number of red blood cells, and a reticulocyte count, which measures the number of young red blood cells in the circulation.

Other tests may also help rule out liver or kidney disease conditions. These include imaging tests such as ultrasounds or CT scans, biopsies, and laboratory tests. In some cases, genetic testing may also be recommended. This type of testing is usually done when the doctor suspects that a genetic mutation is the cause of the condition.

How to Treat Congenital Hemolytic Anemia?

Congenital hemolytic anemia is a lifelong condition, and treatment focuses on managing symptoms, preventing complications, and reducing the severity of anemia. Treatment typically begins with simple lifestyle modifications, such as getting plenty of rest, eating a healthy diet, avoiding triggers such as alcohol and smoking, and avoiding strenuous activities.

Other treatments may include medications, blood transfusions, or surgery, depending on the type of congenital hemolytic anemia. Common medications for congenital hemolytic anemia include iron supplements, folic acid supplements, corticosteroids, immunosuppressive drugs, and erythropoietin (EPO).

  • Iron supplements can help improve the body’s ability to create new red blood cells and are often prescribed for cases where anemia is caused by a lack of iron in the diet.

  • Folic acid helps improve red blood cell production and is sometimes prescribed for cases where a deficiency in folic acid causes anemia.

  • Corticosteroids can help reduce inflammation in the bone marrow.

  • Immunosuppressive drugs can help reduce the immune system’s attack on red blood cells.

  • Erythropoietin (EPO) stimulates the body’s production of red blood cells. It is sometimes prescribed in cases where the anemia is caused by a failure of the bone marrow to produce enough red blood cells.

In some cases, a blood transfusion may be needed to provide temporary relief from severe anemia. Blood transfusions involve taking healthy red blood cells from a donor and transferring them into the patient’s bloodstream. That provides a temporary solution until the patient’s body can produce more red blood cells.

Surgery is sometimes necessary to correct certain genetic defects causing congenital hemolytic anemia. For example, if a person has an abnormal gene that causes their body to produce abnormal red blood cells, a splenectomy (spleen removal) may be necessary to correct this issue.

It is important to remember that each case of congenital hemolytic anemia is different and treatment plans should be tailored to the individual. A medical professional should be consulted to determine the best course of action.

What Is the Prognosis of Congenital Hemolytic Anemia?

The prognosis for patients with congenital hemolytic anemia depends on the severity of the disorder, how quickly it is diagnosed, and the underlying cause. Sometimes, the prognosis is good if caught early and managed appropriately. Prevention of congenital hemolytic anemia can be difficult. However, some steps can be taken to reduce the risk, such as avoiding certain environmental triggers.


Congenital hemolytic anemia is a condition in which the body produces abnormal red blood cells. It can have several causes, including genetic and environmental factors. It is important to understand the signs and symptoms of this condition and seek medical attention if they develop. Diagnosis typically involves physical examination, blood tests, and imaging tests. Treatment depends on the underlying cause, including medication, diet changes, or transfusions. People with congenital hemolytic anemia can expect to lead normal lives with proper care.

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31 Mar 2023  -  5 min read




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