Hemoglobinopathies or Inherited Anemia - Types, Diagnosis, and Treatment

Introduction

A molecule called hemoglobin (Hb), which is found in red blood cells is in charge of carrying oxygen throughout the body. Hemoglobin consists of two alpha globin and two beta (non-alpha) globin chains. Therefore, hemoglobin levels must be maintained to provide an appropriate oxygen delivery. In blood, the amount of hemoglobin is measured in grams per deciliter (g/dl). Males should have a Hb level of 14 to 18 g/dl, while females should have 12 to 16g/dl. A person gets anemia when the hemoglobin levels are low. The shape of red blood cells is usually round, but the shape can change when abnormalities happen.

What Are Hemoglobinopathies?

Gene abnormalities affecting the structural genes for alpha globin or beta globin are the source of an abnormal hemoglobin. An abnormality in the formation or shape of the hemoglobin molecule is referred to as hemoglobinopathy. It is transmitted within families (inherited).

Following are the types of inherited anemias.

• Congenital hemolytic anemia.

• Thalassemia - major (cooleys anemia) and minor (target cell anemia).

• Sickle cell anemia.

• Hb C and Hb Ddiseases.

• Combinations of sickle cell anemia.

• Sickle cell - thalassemia.

• Sickle cell - Hb C.

• Sickle cell - Hb D.

• Hereditary non-spherocytic hemolytic anemia.

• Ovalocytosis.

What Is Thalassemia?

When hemoglobin protein is not made in enough quantity, this condition arises. Thalassemia can be categorized as alpha thalassemia and beta thalassemia. In alpha thalassemia, the alpha protein part is missing, whereas in beta-thalassemia, the beta protein part is missing.

• Thalassemia Major - Also termed cooley anemia. This serious condition is observed when an abnormal gene is inherited from both parents.

• Thalassemia Minor - Also termed target cell anemia. This condition is observed in individuals when an abnormal gene is inherited from a single parent.

What Is Sickle Cell Anemia?

Red blood cells tend to form sickle shapes in contrast to healthy RBC structures, which are biconcave in structure. As a result, these cells die early with a shortage of RBCs in the body, and also they obstruct the blood flow in small blood vessels because of their sickle shape.

A change in the gene-producing hemoglobin causes it. It is passed on from parents to the offspring. Symptoms of sickle cell anemia include-

1. Fatigue.

2. irritability.

3. Episodes of pain.

4. Frequent infections.

5. Delayed growth.

6. Vision problems.

7. Fever.

Supportive treatment is usually given to manage sickle cell anemia. Blood transfusions are done in symptomatic patients and dietary supplements of folic acid are administered, which help in the production of RBCs. Sickle cell anemia is not the same as iron deficiency anemia. Therefore, iron supplements are only taken with the proper consultation of the physician.

What Is Hb C and Hb D Disease?

They are caused due to changes in the mutation of genes. Hemoglobin C is more common seen than hemoglobin D, which is rarely seen. It is an inherited blood disorder in which hemoglobin C is produced by the red blood cells rather than hemoglobin A, which is normally produced. Usually, the presence of HbC cannot be considered a disorder unless it shows any symptoms. Symptoms include weakness, splenomegaly (increase in the size of the spleen), and jaundice. It can also affect vision partially. Though the symptoms are not lethal, early detection of hemoglobin C and hemoglobin D traits can help when parents wish to have children.

What Are Combinations of Sickle Cell Anemias?

Any combination of abnormal hemoglobin other than hemoglobin A can lead to hemolytic anemia.

• Hemoglobin C and Sickle Cell Disease - As a result of a combination of hemoglobin C and S, mild hemolytic anemia can occur along with splenomegaly and an increase in the target cells (a type of red blood cell having a bull's eye appearance) is noted.

• Thalassemia and Sickle Cell Disease - Clinically patients having both thalassemia and sickle cell anemia show symptoms related to sickle cell anemia. There have been varied cases of sickle cell anemia along with the presence of abnormal hemoglobins. In addition, according to recent studies, thalassemia and abnormal hemoglobins also occur together

What Is Hereditary Non-spherocytic Hemolytic Anemia and Ovalocytosis?

Hereditary non-spherocytic hemolytic anemia is an inherited blood disorder with a deficiency of enzymes required for red blood cell metabolism. Patients with hereditary non-spherocytic hemolytic anemia show symptoms of jaundice (yellowing of the skin and mucous membranes due to the liver), tiredness, enlarged liver, and enlarged spleen (an organ which is a part of the body's immune system). Not all patients having hereditary nonspherocytic hemolytic anemia are symptomatic. Usually, patients show mild or very few symptoms. For such patients, no specific treatment is needed. However, symptomatic and supportive management is advised.

Ovalocytosis is a rare inherited blood disorder in which the red blood cells are oval rather than round. Newborn infants often show anemia and jaundice symptoms, while adults are mostly asymptomatic. In certain cases, the spleen can be enlarged, associated with the presence of gallstones and also kidney problems. Splenectomy (removal of the spleen) is done in symptomatic cases.

What Is the Diagnosis for Haemoglobinopathies or Inherited Anemias?

The following methods make a diagnosis of anemia

• Complete Blood Count - Complete blood count is a blood test in which the amount of red blood cells and percentage of hemoglobin is evaluated. In anemia, there can be a decrease in hemoglobin levels, which can depict the severity of the condition and plan the treatment.

• Blood Smear Test - It is a method to detect the presence of abnormally shaped red blood cells or the presence of any unusual cells. It can also depict differences in the sizes and colors of the cells.

• Bilirubin Level - Normal bilirubin level is 1.2 milligrams per deciliter (mg/dL) for adults, which can be increased in cases of anemia. This level is monitored to finalize the presence of jaundice.

• Ultrasound of the Abdomen - It is a diagnostic method to visualize the internal organs in the abdomen. This method can also detect the enlargement of various organs like the liver and spleen.

What Is the Treatment for Hemoglobinopathies/ Inherited Blood Disorders?

Inherited disorders cannot be prevented. Their presence can be noted early, and precautions are taken to combat risky symptoms. In severe conditions, the following are the treatment methods.

• Stem Cell Transplantation - It is mostly used as a treatment method in patients suffering from thalassemia. It includes transplantation of stem cells which help produce other new normal blood cells.

• Periodic Blood Transfusions - Blood transfusions are done under the strict advice of the physician. Therefore, the period between blood transfusions varies from patient to patient.

• Iron Therapy - Indicated in mild cases of anemia also. Iron therapy is not the only treatment for all types of anemias. It is prescribed when needed depending on the type of anemia and clinical condition of the patient.

• Analgesics - They are painkillers that aid in decreasing joint pains in various anemias.

Conclusion

Inherited anemias are a part of inherited blood disorders/ hemoglobinopathies, which are treated depending on their symptoms. These disorders can be mild, showing no symptoms or extreme effects, which can be lethal. Treatment of inherited blood disorders like anemias mainly involves treating the symptoms. Hence proper care should be taken after the symptoms, and it is advised for the mother and father planning children to be aware of the occurring blood disorders, that tends to continue lifelong.