Thalassemia:
It is
genetic disorder.
Hemoglobin
(Hb) is an oxygen-carrying component.
Hb is made
of two protein alpha (α) and
beta (β). Decreased synthesis of α or β chain
leads to decrease in oxygen carrying capacity.
α
thalassemia: α-globin
gene deletion, decreases production of α chain. When there is complete absence of α globin
chain, then it can cause life threatening situation like hydrops-fetalis.
β
thalassemia: Mutation of β globin chain. When there is mutation of one gene; it causes Beta
thalassemia minor. Mutation of both the genes causes β
thalassemia major (cooley’s anemia). Symptoms of major starts after 6 months of
age.
Etiology:
Autosomal recessive condition. Either both parents are affected or acts
as a carrier.
Epidemiology:
Asian and African both are prevalent to α thalassemia. Mediterranean population,
Southeast Asia and Africa are prevalent to β thalassemia.
Signs and
symptoms:
Depends on the severity of the condition:
·
As there is breakdown of RBC, signs which are seen are:
pale skin, fatigue, ulceration, bronze skin due to frequent blood transfusion.
·
Chipmunk face
·
Irregular heartbeats (Arrhythmia)
·
Hepatosplenomegaly
·
Chronic liver failure
·
Slow growth in children
·
Due to iron deposition: Diabetes,
hypothyroidism/hyperparathyroidism, Chronic arthropathies, Parkinson’s disease
Work-up:
·
Complete blood count shows: - Low hemoglobin
- Low MCV
- MCV/RBC: if < 13, thalassemia;
if >13, iron deficiency anemia
·
Peripheral blood smear: - Low MCV
- Hypochromic cells
- Variation in shape and size
- Increased reticulocyte percentage
- Heinz bodies
- Target cells
·
Iron profile
·
Hb- electrophoresis
·
DNA analysis
·
Genetic testing of amniotic fluid
Differential
diagnosis:
·
Iron deficiency anemia
·
Anemia of chronic disease
·
Renal failure
·
Sideroblastic anemia
·
Lead poisoning
Complication:
·
Jaundice/ Gall stones
·
Cardiac failure
·
Hepatosplenomegaly
·
Delayed puberty
·
Risk of parvovirus B19 infection
Treatment
and Management:
Mild cases: Occasional need of blood transfusion- post-surgical or
following child birth.
Moderate to severe:
-Frequent blood transfusion may require; around 9-10 mg/dl of hemoglobin
should be maintained.
-Chelation therapy: Iron chelators are given to remove iron.
-Stem cell transplant
-Gene therapy
-Gene editing techniques
-Splenectomy
Diet: It has been observed that tea decreases iron absorption, as it
decreases iron load.
Prognosis:
Thalassemia minor: Good
Thalassemia major: Prognosis depends on line of treatment.
To know more click on following link:
Credit: https://www.ncbi.nlm.nih.gov/books/NBK545151/
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