Thalassemia Minor

What is Thalassemia Minor?

Thalassemia Minor or trait or carrier is a form of Beta-Thalassemia/Alpha-Thalassemia/delta-beta thalassemia/other variants resulting in mild anaemia in individuals. In most cases, the Thalassemia Minor is totally asymptomatic and only an incidental clinical evaluation reveals the condition.

Thalassemia Minor is the heterozygous state where the individual has only one copy of the mutated thalassemia gene along with another normal beta/alpha globin gene. Such individuals are said to carry the trait and can pass it on their offspring.

Patterns of Inheritance

Thalassemia Minor is inherited when the offspring inherits only one copy of the defective globin chain gene from either parent. Such individuals have one mutated copy and one normal copy of the gene.

According to WHO, at least 5.2% of the global population carriers a significant variant of the Thalassemia Minor gene. According to Colah, Italia and Gorakshakar (2017), there are nearly 35-40 million carrier of Beta-Thalassemia in India which makes it prevalent in 3-4% of the total population.

Pattern_Of_Inheritance — Image source: Pixabay

Symptoms and Diagnosis

Symptoms

Signs and symptoms in Thalassemia Minor are almost absent and only in some cases present with mild microcytic anaemia.

Diagnosis

If your paediatrician suspects Thalassemia Minor, he/she will do some simple blood tests to confirm. Some of the blood tests include:

Complete Blood Count (CBC) which will usually indicate hemolytic anaemia with increased WBCs (white blood cell counts), low platelets (due to expansion of spleen) and microcytic anaemia
Hemoglobin electrophoresis with check for levels of fetal hemoglobin
FEP (free-erythrocyte protoporphyrin) and serum ferritin to rule out iron-deficiency anaemia

While the above tests may suffice to get an initial diagnosis of Thalassemia Minor, DNA testing is recommended to confirm.

Current Management

No treatment is necessary or advised for Thalassemia Minors except supplements like folic acid and other multivitamins and B12.

References

Description, Types, Causes, Diagnosis, Treatment

https://www.medicinenet.com/beta_thalassemia/article.htm

https://www.dynamed.com/condition/beta-thalassemia-minor-21

https://www.stjude.org/treatment/disease/sickle-cell-disease/diagnosing-sickle-cell/beta-thalassemia-trait.html

https://www.hopkinsmedicine.org/health/conditions-and-diseases/beta-thalassemia

Epidemiology

https://www.who.int/bulletin/volumes/86/6/06-036673/en/

Colah, Roshan, Khushnooma Italia, and Ajit Gorakshakar. "Burden of thalassemia in India: The road map for control." Pediatric Hematology Oncology Journal 2, no. 4 (2017): 79-84. Accessed on 2 July 2020 from https://www.sciencedirect.com/science/article/pii/S2468124517300748