Thalasemia is a genetic disorder where in mutation or deletion in any genes responsible to produce globin chain of haemoglobin results in abnormal haemoglobin production.
Normal adult has Haemoglobin A (HbA). HbA is a hetrotetramer of two α globin chains and two β globin chains. In normal humans there are total 4 genes (2pairs) for production of αglobin chain and 2 genes(1 pair) for production of β globin chain. When there is defect in genes producing α globin or β globin chains of heamoglobin it results into thalasemia.
TYPES
- Alpha Thalasemia – Abnormal or dhieficient α globin chain production
- Beta Thalasemia – Abnormal or deficient β globin chain production.
- Delta Thalasemia – Abnormal or defective delta chain production.
- Thalasemia in combimation with other haemoglobinopathies like – Haemoglobin S , Haemoglobin E, Haemoglobin C, Haemoglobin D.
Of the above all types the most common types alpha and beta are discussed below.
ALPHA THALASEMIA
Alpha Thalasemia has defective α globulin chain production. Genes responsible to produce α globin chain are situated on chromosome 16. HBA1 and HBA2 genes are responsible for production of α globin chain. Both the genes are acquired from both the parents so total two HBA1 and two HBA2 genes. So, there are two genes acquired from each parent making total 4 genes or two pairs(αα/αα) responsible to produce α globin chain.
Depending upon number of gene deleted the condition is classified into 4 categories
- α Thalasemia Silent (1 gene deletion)
- α Thalasemia Trait (2 gene deletion)
- HbH disease (3 gene deletion)
- Hb Bart Syndrome (all 4 gene deletion)
Alpha Thalasemia Silent
Any one gene deletion (-α/αα), one of the two allele not received from one parent. Usually there are no sign of anaemia as the remaining three genes produce sufficient alpha globin chains. Althought they dont show symptoms they are the silent carrier and if married to person with one or more α globin making gene deletion then some of their offsprings will have symptoms, probability and severity of the disease in the offsprings will depend on number of gene deletion in the partner.
Alpha Thalasemia Trait
Any two gene deletion, it can be of two genotypes as descussed below, this type shows mild anaemia symptoms.
- Two gene deletion – homologous; one of the two allele not received from each parent(-α/-α).
- Two gene deletion- heterologous; both the alleles not received from one parent (–/αα).
HbH Disease
Three gene deletion (–/-α) No copy of gene received from one parent and only one of the two copy received from another parent. These causes very low α chain production resulting into excess proportion of β chains causing formation of unstable haemoglobin tetramer made up of 4 β globin chains, instead of two α and two β. This type of haemoglobin with all 4 globin chain of β globin is called HbH which is very unstable. These individuals shows moderate to severe anaemia and other thalasemia related symptoms.
Hb Bart Syndrome
All four gene deletion (–/– )No copy of α chain producing gene received from either of the parent. It is a fatal condition where in there are no α chains produced and results into severe fetal condition called hydrops fetalis. Death ensues soon after birth.
BETA THALASEMIA
Beta thalasemia has defective β globin chain production. For production of β globin chain there is only one gene acquired from each parent makin it total one pair(β/β) i.e total 2 genes responsible to produce β globin chain. Gene Responsible for production of β globin chain is called HBB and is located on chromosome 11.
Beta Thalasemia Minor
- (b/β) One gene received from a parent is altered and the one from other parent is normal.
- (-/β) No gene received from a parent and the gene received from another parent is normal.
Beta Thalasemia Intermedia
- (b/-) One copy of gene received from a parent altered and one from another parent is absent.
- (b/b) Genes received from both the parent are altered.
Beta Thalasemia Major
- (-/-) No genes producing β globin chain received from either parent.
SIGNS AND SYMPTOMS
Symptoms and its severity depends upon the above mentioned severity of genotype the individual has few complaints which patient with this disease condition show are mentioned below.
- Anaemia
- Iron Overload
- Bone deformities
- Enlarged spleen
- General growth is slow
- Ferquent Infections
- Cardiac complaints
DIAGNOSIS
- Complete blood count
- Hb Electrophoresis
- DNA analysis.
HOMEOPATHIC TREATMENT AND INDICATED HOMEOPATHIC MEDICINES FOR THALASEMIA
- Cinchonna Officinalis
- Abrotanum
- Natrum Muriaticum
- Phosphorus
- Calcarea Phosphorica
- Calcarea Carbonica
- Calcarea flourica
- Ruta Graveolens
