THALASSEMIA
All races are affected by thalassemia, a group of genetic disorders characterized by the production of abnormal hemoglobin in red blood cells, also known as Mediterranean anemia, von Jaksch anemia, or Cooley’s anemia after the doctors who first identified it.
The black population of Africa has the lowest prevalence of it.
SYMPTOMS OF THALASSEMIA
Although thalassemia is a genetic disorder passed on from parents, not all patients experience it to the same extent. The symptoms in thalassemia vary greatly depending on its type.
Silent carriers :
Persons having thealpha thalassemia traitorbeta thalassemia traitThe condition is so mild that even the positive findings of slightly decreased hemoglobin and red cell count are incidental, and the majority of people with it do not typically have any symptoms.
Symptoms of severe thalassemia include:
- Breathlessness (dyspnea)
- Jaundice
- Larger spleen and liver cause the abdomen to appear distended or protruded.
- Anemia-related pale skin
- Bone pains
- bones in the face are growing abnormally.
- The child has stunted growth and is small-framed.
CAUSES OF THALASSEMIA
The most prevalent inherited single gene disorder in the world, thalassemia is a genetic condition with a wide range of variant and mutant forms.
Hemoglobin, which is a component of all red blood cells and carries oxygen from the lungs to all body tissues and carbon dioxide from those tissues to the lungs for exhalation, is also a component of hemoglobin.
Heme A, which is composed of ferrous (iron), and globin, which is made up of alpha and beta protein chains, are the two main components of “hemoglobin.”
Anemia, which begins in infancy and lasts throughout life, is caused when the genes in charge of producing alpha or beta chains do not produce enough of either type.
Hemoglobin (Hb) comes in a variety of forms, the most prevalent being HbA, HbA2, HbF, HbS, HbC, Hgb H, and Hgb M.
only moderate levels of are present in healthy adults.HbA and HbA2.
HbC is also an abnormal form of hemoglobin associated with hemolytic anemia (anemia caused by increased red blood cell lysis), while HbS is an abnormal type of hemoglobin associated with sickle cell disease.
TYPES OF THALASSEMIA
Depending on its type, thalassemia can be either alpha or beta.
Thalassemia is referred to as either “alpha” or “beta” depending on whether there is insufficient beta chain production or insufficient alpha chain production.
Alpha Thalassemia
The term “silent carrier” is also used to describe alpha thalassemia.
The condition is an accidental discovery when an apparently healthy person has a child with Hemoglobin H disease or has the alpha Thalassemia trait. In this condition, the deficiency of alpha proteins is mild enough to not produce any symptoms, and there are typically no health issues.
Hemoglobin H disease
Hemoglobin H, the abnormal form of hemoglobin produced by the remaining beta globulins, is the abnormal form of hemoglobin that causes faster than normal breakdown of the red blood cells. In this condition, the deficiency in the production of alpha globulin is great enough to cause severe anemia, enlargement of the liver and spleen, bone deformities, and fatigue in addition to anemia.
Alpha Thalassemia trait or mild alpha Thalassemia
Since the symptoms of hemoglobin H disease are so mild compared to those of alpha protein deficiency, neither the patient nor the doctor are aware of the condition, so iron supplements are frequently given to treat the mild anemia, but the condition does not improve.trait.
Hydrops Fetalis or Alpha Thalassemia Major
With the exception of very rare circumstances where this condition is identified before birth, nearly every person with this condition dies before or soon after birth. There are no alpha globulins in this condition, which causes gamma globulins produced by the fetus to form abnormal hemoglobin called hemoglobin Barts.
where the individual endures (within uteroIn order to survive, they need blood transfusions every day of their lives.
Beta Thalassemia
There are three different types of beta thalassemia, ranging in severity from mild to severe.
Minor beta-thalassemia or a beta-thalassemia gene:
If mild anemia is present, it is typically mistaken for anemia of iron deficiency, but the response to treatment with iron supplements is typically subpar. A person with this condition only carries the genetic risk for thalassemia and typically does not experience any health issues related to thalassemia.
Thalassemia intermedia:
People with this condition, which is intermediate between major and minor anemia, occasionally need blood transfusions to combat the condition, particularly during physically demanding periods like pregnancy or illness.
The symptoms of Thalassemia intermedia can vary greatly in severity and include moderately severe anemia, bone malformations, and spleen enlargement.
The number of blood transfusions needed to improve quality of life rather than because the symptoms are life-threatening is the best way to distinguish this condition from thalassemia major.
Thalassemia major or Cooley’s Anemia:
Untreated patients die before the age of twenty. Frequent blood transfusions are necessary for survival. Other symptoms requiring special treatment in this condition include bone deformities, an enlarged spleen, and iron overload in the system due to frequent blood transfusions. This condition is severe and has life-threatening consequences. There is a complete lack of beta globulin protein.
DIAGNOSIS OF THALASSEMIA
Thalassemia major is diagnosed through the analysis of lymphocyte DNA and hemoglobin electrophoresis, both of which show an increase in total hemoglobin.
An electrophoresis of hemoglobin typically reveals:
- HbA decreased
- HbA2 increased
- Little to no change in HbF levels
- The levels of hemoglobin and different blood cells can be determined by a complete blood count.
-
These complete blood count values support the presence of thalassemic minor.
- Mean corpuscular volume (MVC) was slightly lower and
- The mean corpuscular hemoglobin (MCH) level falls.
- In order to rule out anemia brought on by an iron deficiency, serum iron levels are measured.
- In order to identify potential carriers and patients for family genetic studies, blood tests of family members are used.
To determine whether the unborn child has Thalassemia, prenatal blood testing is also helpful.
HOMOEOPATHIC MEDICINE FOR THALASSEMIA
Homeopathic medicine helps to improve immune status, which in turn helps to control frequent attacks of respiratory infections. It plays a supportive role in the treatment of Thalassemia by addressing the underlying cause and providing medication that eventually helps reduce the need for frequent blood transfusions.
Homeopathic Medicine of Thalassemia :
phosphorus, natrium mur, ferrum, and sulfium
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