Hemoglobinopathy Primer

Hemoglobin forms a very crucial component of human blood that helps in carrying oxygen to various parts of human body. Benefits of the compound are well known to even a common man today. Owing to the role of hemoglobin in keeping human beings healthy, any anomaly in the compound, both quantitative and qualitative, could lead to some serious issues.

A decline in count of hemoglobin eventually leads to shortage of oxygen to various organs, better known organ ‘hypoxia’. However, sudden rise in hemoglobin count also affects the normal functioning of human body.

Apart from the diseases related to abnormality in count, any variation in the structure of hemoglobin molecule is potentially harmful. One such condition that depicts abnormality in the structure of hemoglobin molecule is termed as ‘hemoglobinopathy’.

Hemoglobinopathy is a form of genetic disorder characterized by variation in the structure of one of the compound’s globin chains. Sickle-cell diseases and thalassemia are some of the most common forms of hemoglobinopathies. This is more prevalent in some parts of the globe, such as Africa, Southeast Asia, and parts of Mediterranean basin.

Common Symptoms Of Hemoglobinopathies

Most of the hemoglobinopathies have mild or acute anemia as its prominent symptoms. Some of these even get characterized by hemolytic anemia. Symptoms for hemoglobinopathies vary in accordance with the type of the disease.

Incidentally, abnormality in the shape of red blood cells is the prime symptom of a majority of sickle cell diseases. This abnormality in shape leads to a number of problems, such as circulatory troubles and damage of some of the organs of the body. On the other hand thalassemia symptoms include inadequate production of erythrocytes, a condition scientifically termed as erythropoeisis.

Migration Patterns Involved In Hemoglobinopathy

Migration patterns associated with this form of hematological diseases are broadly classified into two categories:

1. Alkaline Electrophoresis – In terms of alkaline electrophoresis, the mobility of hemoglobin H rests at the peak, while hemoglobin A2 is at the lowest part. Generally, a sickling test is performed on anomalous hemoglobins moving to the S location to observe the precipitation of red blood cells in solution.
2. Acid Electrophoresis – In acid electrophoresis, hemoglobin C is the most mobile molecule followed by hemoglobin S, while hemoglobin F shows the lowest mobility.

Both these methods are immensely beneficial in isolating the variants of Hgb. Hgb G-Philadelphia, for instance, would move with S during alkaline electrophoresis and would move with A during acid electrophoresis.

Certain hemoglobinopathies apparently have given an evolutionary advantage, primarily to heterozygotes, in regions of the globe where malaria is widespread. Malarial parasites reside inside erythrocytes, but ingeniously affect normal functioning of cells. In patients who are susceptible for prompt clearance of RBCs, this could lead to early damage of parasite infected cells and enhanced the chances of continued existence for the trait’s carrier.

Hemoglobinopathy is a specific form of hematological diseases that has its roots in genetics. It is predominant in some regions of the planet, and around 7 percent of the total population of the world is carrier of this form of disease.