Hemoglobin C- An Overview

Introduction:

Hemoglobin disorders are inherited blood diseases that affect the quantity or amount of hemoglobin and the quality or capacity to carry oxygen around the body. The abnormal hemoglobin that does not function properly in carrying oxygen is hemoglobin C due to the occurrence of several unwanted events. These abnormal types of hemoglobin can lead to severe health conditions which can need immediate treatment.

What Is Hemoglobin?

Hemoglobin is an iron-containing protein in the red blood cells that helps in the transportation of oxygen in the blood. Different types of hemoglobin like hemoglobin A, hemoglobin F, hemoglobin A2, hemoglobin C, hemoglobin S, hemoglobin E, and hemoglobin F. Hemoglobin A, A2, and F are normal hemoglobin types, whereas Hemoglobin C, S, and E cause disorders like anemias.

What are The Facts About Hemoglobin C?

• Hemoglobin C is a benign hemoglobinopathy that can cause mild hemolytic anemia.

• Individuals with hemoglobin C have normal growth and development and a normal life expectancy.

• Due to continuous hemolysis of hemoglobin C, it might produce cholelithiasis due to pigmented gallstones.

• When hemoglobin C is combined with sickle cell in an individual, it might develop vascular retinopathy, avascular necrosis, and renal medullary microvascular thrombosis.

• Hemoglobin C is a mild disorder and therefore usually treatment is not required.

What Is Hemoglobin C Trait and Hemolytic C Disorder?

Hemoglobin C is an abnormal type of hemoglobin that also functions by carrying oxygen but not efficiently. As a result, hemoglobin C becomes responsible for forming crystals or lumps, decreasing the blood flow and making them break easily, decreasing their life span. The red blood cells in this disorder cannot show flexibility and are more rigid due to insufficient water. Patients suffering from sickle cell anemia (a disorder of the blood) also show a decreased life span and decreased number of red blood cells in the body.

The presence of hemoglobin C leads to hemoglobin C disorder. This inherited blood disorder causes red blood cells to produce hemoglobin C rather than hemoglobin A, which is produced normally. The decreased number of red blood cells in hemoglobin C disorder can develop into hemolytic anemia.

What Is Hemolytic Anemia?

Hemolytic anemia is a blood condition in which the red blood cells are destroyed faster than they can be replaced. A person with hemolytic disease shows fatigue, fever, chills, pains, weakness, and dizziness. This condition is usually treated by blood transfusions, bone marrow transplants, removal of the spleen, and medications as prescribed.

What Are the Symptoms of Haemoglobin C Disorder?

Hemoglobin C disorder can be asymptomatic (absence of any symptoms) in a few cases.

It shows symptoms like that of anemia, such as -

• Fatigue.

• Weakness.

• Increased risk for gallstones.

• Joint pains.

• Increased risk of infections.

• Splenomegaly, where there is an increase in the size of the spleen (an organ that is a part of the lymphatic system helping fight infections in the blood).

• Jaundice is a condition in which the body's skin and mucus membrane turn yellow due to bile (a liver secretion).

What Are the Diagnostic Measures of Hemoglobin C Disorder?

• Haemoglobin Electrophoresis - A blood test can detect various hemoglobin in the blood. It also measures the level of hemoglobin and also visualizes abnormal hemoglobin. Various types of hemoglobins detected include hemoglobin S, hemoglobin C, and hemoglobin E. This process works by applying electric current to the blood sample, which can separate different types of hemoglobin, and each type of hemoglobin can be measured individually. It uses the principle of high-performance liquid chromatography, where various chemicals are separated similarly.

• Peripheral Smear or Blood Film Findings - Due to the decreased solubility of hemoglobin C, blood smears show the presence of hexagonal and tetragonal crystals. Various irregularly contracted red blood cells are also seen with these crystals.

• Polymerase Chain Reaction Test - It is a process in which numerous replicas of a single DNA are made and used to diagnose particular mutations, determining the disease's presence.

What Are the Treatment and Complications Occurring Due to Hemoglobin C Disorders?

• No treatment is required for asymptomatic cases.

• Treatment is advised based on the presence of symptoms.

• As folic acid in the body can be depleted, folic acid is administered, which helps produce new red blood cells.

• Interprofessional care is necessary involving a geneticist, hematologist, and ophthalmologist.

• Soon after the diagnosis, the hematologist plays a major role in management.

• As there is a high chance of the presence of two or more disorders of blood to be present along with this, geneticists must be involved to confirm the presence of various abnormalities.

• As complications can affect the eye, ophthalmologists should be involved in providing proper care and follow-up.

Complications of hemoglobin C disorder can rarely occur such as -

Cholelithiasis - Presence of one or more gallstones in the gallbladder (an organ where digestive enzyme bile is stored).

Vascular Retinopathy - It is a disease of the retina (eye) that is caused due to disturbances in blood supply, causing impaired or loss of vision.

Avascular Necrosis - Death of bone tissue due to disrupted blood supply.

Renal Medullary Microvascular Thrombosis - Reduction of blood supply to the kidney.

Capillary Alterations - Changes in the walls of blood vessels.

When to Seek Help and How Can Haemoglobin C Disease Be Prevented?

Usually, symptoms and complications keep showing as the baby grows up. For example, children usually present with pain in the upper abdomen or back frequently after eating.

This may indicate the presence of gallstones. Preventive antibiotics are prescribed to reduce the infection.

Examination of the spleen can detect splenomegaly (enlargement of the spleen). Therefore, they are advised to avoid high-contact sports to avoid injury.

Hemoglobin C disorder is an inherited disease and hence cannot be prevented. However, blood tests of both mother and father can predict the chances of the baby being born with the disorder.

Patient education - Transmission of hemoglobin C disorder occurs when the father, mother, or both have the genes for this disorder. The genes for hemoglobin C pass to their children, so genetic counseling is needed for couples with hemoglobin C disease and planning a baby.

Conclusion:

Hemoglobin C disorder is inherited in which the affected gene for hemoglobin c is carried from the parents to the offspring. Though the disorder is the least effective, another blood disorder can cause serious implications. In such cases, management should be initiated early to obtain better treatment outcomes. Diagnosis plays an important role in determining the type of inherited blood disorder, which makes the treatment be planned effectively. Parents should be aware of certain disorders that can affect their children when left unnoticed.