Introduction

Thalassemia is largely a protein tertiary level disorder caused by $$\alpha_m\beta_n$$ structure where the normal condition $$m=n=2$$ is often violated https://themedicalbiochemistrypage.org/hemoglobin-myoglobin.php. The wrong m,n values are caused by mutations in the exon or non-coding region. In addition there is large population of E-mutation , that occurs in the coding region. Often E-mutation comes along with alpha or beta thassemia, e.g. E-beta. Thalassemia carrier detection is more challenging than thalassemia major detection and the importance in carrier detection lies in effective counselling.
Importantly, as thalassemia is an inherited disorder that affects hemoglobin, the oxygen-carrying protein in red blood cells (RBCs) there is a series of associated complications that follow. The defective hemoglobin results in fewer and less effective RBCs, causing symptoms of anemia, slowed growth, and delayed puberty. Thalassemia may be mild or severe, depending on how many defective genes a child receives from parents http://global-diseases.healthgrove.com/l/216/Thalassemias.
It can be diagnosed before or after a baby is born using tests to identify the defective gene (pre-natal). Treatment includes blood transfusions to supply healthy RBCs. Because repeat blood transfusions can lead to complications if too much iron accumulates in vital organs, chelation therapy http://thalassemia.com/treatment-chelation.aspx to remove excess iron is usually necessary.
Bone marrow transplant is a treatment option for children who have more severe forms of thalassemia. Several organizations exist to provide education and support for families affected by thalassemia.

Statistical Design

• Stage I - Sueprvised training (Known mutations will be taken for microfluidics study)
• Stage II- Inferential Statistics - (Unlabelled Samples , origin known at the source level, will be provided to the microfluidics set up)
• Stage III - Double Blind - Blood may be collected from patients with uncharacterized (mutation known) sources - and molecular origin will be predicted.

Initial Samples chosen

• Symptomatic Beta Thalassaemia
• Alpha thalassemia
• E mutation

Microfluidics Checks

• Actuation voltage
• Volatage dependence of contact angles
• Drop drynamics
• Channel based whole blood behaviour in presence and absence of osmotic and magnetic perturbations.
• Exploratory attributes like drying pattern may also be investigated.

Manpower

Scholars from IIT (Udita and Manikuntala), IHTM (Dr.Rudra Ray & Dr. Neekkan Dey), Prof. Sunanda Dasgupta & Prof. M.Bhattacharya (Professors at IIT and IHTM). The MD(IHTM) and M.Tech(IIT), M.Sc (Biochem. CU) students may get involved and do the experiments as part of their project.