Hemoglobin Abnormalities

Hemoglobin abnormalities are the group of blood disorders that affect the normal functioning of the hemoglobin in the red blood cells. These are genetic disorders that results in the altered size and shape of the red blood cells, thereby decreasing the oxygen-carrying capacity of the blood.

Hemoglobin is chains of iron-containing protein structures that comprises of alpha, beta, gamma and delta globin chains. Any change in the structure of the globin chains results in the occurrence of hemoglobin abnormalities. The common hemoglobin disorders include sickle cell anemia, thalassemia, and hemolytic anemia.

Hemoglobin abnormalities is a global issue wherein 7% of the world’s population are carriers of the defective gene. Around 3- 5 lakh children are reported to be born with hemoglobin disorders each year with a large number of cases reported in low and middle-income countries.

Signs and symptoms

The common signs and symptoms of hemoglobin abnormalities include:

Pale skin

Weakness and lethargy

Shortness of breath

Severe abdominal and body pain

Jaundice

Enlarged spleen

Growth abnormalities in children

Diagnosis

The diagnosis of hemoglobin abnormalities includes:

Complete blood cell (CBC) count: The complete blood cell count is done mainly to evaluate the cell count of various components of blood such as red blood cells, white blood cells and platelets. It also helps in recognizing the changes in the size and shape of the blood cells. Reduction in the size and abnormal shape of the red blood cells, which is not associated with decrease in the blood iron levels, is an indication of thalassemia.

Blood smear: A blood or peripheral smear is viewed under the microscope to evaluate the changes in the cell structure of the red blood cells, white blood cells and blood platelets. An abnormality in the red blood cell(RBC) can be either smaller than the normal cell size (microcytic) RBC, paler than the normal colored (hypochromic) RBC, altered shape of RBC (as seen in sickle-cell anemia) and immature blood cells.

Hemoglobinopathy evaluation: It is a test to evaluate the relative changes in the size and quantity of abnormal with normal hemoglobin. The relative change in the hemoglobin is useful in confirming the presence of thalassemia or other hemoglobin

DNA analysis: The test is performed to assess the changes in the genetic pattern of the alpha and beta globin molecules of hemoglobin. The test is also performed in people with a family history of hemoglobin abnormalities such as thalassemia and sickle cell anemia to check the probability of an individual to acquire this condition.

Complications

Hemoglobin disorders eventually causes decreased oxygen supply to the various organ systems. This can lead to complications such as delayed growth and heart failure.

Specific complications associated with sickle cell anemia are as follows:

Neurological complications such as stroke and seizures

Eye problems- blindness

Lung diseases- high blood pressure in the lungs (pulmonary hypertension) and scarring of lungs (pulmonary fibrosis)

Painful erection and impotence

Treatment

There are no specific medicines prescribed for the cure of hemoglobin disorders. However, supportive therapy such as iron and vitamin supplementation, blood transfusion and stem cell transplantation can be useful. In certain cases, gene therapy may be recommended to treat the symptoms of the mutated gene.

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Reference

Hemoglobin abnormalities. https://labtestsonline.org/understanding/conditions/hemoglobin-abnormalities/start/4. Accessed on 23/10/2017

Management of haemoglobin disorders. Report of Joint WHO-TIF Meeting Joint (2nd : 2008 : Nicosia, Cyprus). http://www.who.int/genomics/WHO-TIF_genetics_final.pdf. Accessed on 23/10/2017

Sickle Cell Anemia. https://www.healthline.com/health/sickle-cell-anemia#types3. Accessed on 23/10/2017

Thalassemia. https://www.healthline.com/health/thalassemia#overview1. Accessed on 23/10/2017

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