STHM stands for Mission of treatment and prevention of three genetic blood disorder like sickle cell, thalassemia and hemophilia.
The uniqueness lies in its approach and modality of activity which are as follows :
Sickle cell, thalassemia and hemophilia are three genetic blood disorders. Most of the patient manifest in early age of their life but if not taken care properly, with increasing age, the disease process adds on complication which affects various organ system. Therefore, multidisciplinary comprehensive care is required to manage the complications.
For these social health problems, myth and social fear are the obstacles. Every year, the log increase in the number of patients, is the result of unawareness and ignorance about the genetic pattern of inheritance. The mission works at ground level, to educate the people to stand for their own needs. It bridges the gap between health system (govt. and private), patients, general public and political will.
Following are the challanges which STHM decides the work for :
Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder (or may be carrying a child at risk) are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.
A person may seek genetic counseling for a condition they may have inherited from their biological parents.
A woman, if pregnant, may be referred for genetic counseling if a risk is discovered through prenatal testing (screening or diagnosis).
Testing enables women or the couples to make a decision as to whether or not to continue with their pregnancy.
Genetic counselors are expert educators, skilled in translating the complex language of genomic medicine into terms that are easy to understand. Genetic counseling helps one to know the chances of inheritance of a genetic disorder so that people can make informed decisions.
Genetic counselors provide information and support the families who have members with genetic disorders, and to families who may be at risk for a variety of inherited conditions.
They can identify families at risk,investigate the problems present in the family, interpret information about the disorder, analyze inheritance patterns and risks of inheritance and review available genetic testing options with the family.
Genetic counselors are present at high risk pregnancy clinics or antenatal clinics or genetic centers.
Genetic counseling can occur at any time in life
Before conception (i.e. when one or two of theparents are carriers of a certain trait) through to adulthood.
After the birth of a child with a genetically inherited disorder. In this instance, the genetic counselor explains the condition to the patient along with recurrence of risk in future children.
In all cases of a positive family history for a condition, the genetic counselor can evaluate risks, recurrence and explain the condition itself.
Endocrine complication are the commonest complication seen with transfusion dependent thalassemia patients which needs regular follow up and monitoring by an endocrinologist. 80 % of thalassemia major patient have stunted growth, maturation arrest, dysfunction of endocrine glands like thyroid, pancreas, parathyroid, pituitary, gonads etc secondary to the complication of iron overload. Therefore, besides blood transfusion and iron chelation, endocrine function evaluation also plays an important role in Thalassemia management.