- Inherited hemoglobinopathies particularly beta-thalassemia and sickle cell anemia are a huge economic and health burden in India
- To work towards prevention and create a set of best practices, the Ministry of Health and Family Welfare along with the National Health Mission and Blood Cell have issued a comprehensive national guidelines document on hemoglobinopathies
- With proper implementation across all states, live births of babies with blood disorders can be prevented
Hemoglobinopathies are serious genetic blood disorders requiring lifelong blood transfusions and treatment in its most severe, chronic form. If undiagnosed or untreated, these disorders ultimately lead to death. South Asia especially India, Pakistan and Bangladesh have high populations of hemoglobinopathies. In India, there are an estimated 100,000 thalassemia majors patients and nearly 3.5 to 4 million carriers of this genetic disorder. Tribal populations in India have a range of 5-40% sickle cell anemia sufferers. In Eastern India, variant hemoglobinopathies like HBE are as common as 3-50% of the population.
Given the severity of the hemoglobinopathies and rising numbers in epidemic proportions, the government of India saw the need to take immediate measures including robust prevention strategies and positive management of existing patients. In partnership with the National Health Mission, the Blood Cell and the Rashtriya Bal Swasthya Karyakram; the Ministry of Health and Family Welfare released a comprehensive guideline document on the Prevention and Control of Hemoglobinopathies in India
This is the first time that a rare group of rare blood disorders are being considered seriously as a public health issue . According to the ministry, thalassemia and sickle cell anemia are the most common rare blood disorders in India and pose a significant economic burden on families and the state.
The objective of the guidelines document is to create benchmarks in treatment protocols thereby improving the quality of life of patients and transforming them into productive citizens.
The guidelines have a comprehensive section on prevention and control which includes antenatal and prenatal testing to reduce the incidence of live haemoglobin disorders births in India (currently pegged at 10,000-15,000 live births each year). The guidelines look at various prevention programs globally and cite examples like Sardinia and Latium in Italy and Montreal in Canada where voluntary carrier screening programmes reduced the incidence of beta-thalassemia to almost zero. The guideline lists the components of a robust control programme as outlined by the World Health Organization (WHO):
- Strong political will and support
- Optimal treatment of affected individuals
- Carrier screening
- Genetic counseling , premarital or antenatal
- Prenatal diagnosis in partners who are carriers
- Programme monitoring
- Community education and awareness regarding transmission of disease to avoid myths, biases and stigma by making information and screening facilities available in public health organizations
- Sustainable and cost-effective carrier screening at the high-school level
- Community level pre-marital screening with non-directive genetic counseling
- Extended family screening of patients and parent carriers
Guidelines for Management of affected Children and Adults
The document outlines clear guidelines for treatment and management of affected populations. The guidelines direct every state government to set up day care and critical care centers in every district (DEIC - District Early Intervention Centres) and provide comprehensive services in all government hospitals. Components of the guidelines include:
- Optimal care to thalassemia and sickle cell affected by establishing daycare centers in hospitals for transfusions and monitoring with the help of state health departments
- Availability of safe blood for affected, strengthen existing blood bank facilities with component separation and leucodepletion
- Promote voluntary blood donations for blood requirements
- Financial support to affected for availing iron chelation medications
- Develop protocols for early diagnosis and intervention for hemoglobinopathies including newborn screening
- Facilitate hemopoietic stem cell transplant in possible cases
- Management of co-morbidities including endocrine, cardiac and skeletal issues
- Psychological support and counseling
- Patient information and education programmes
Keeping in line with the goals of public health, the guideline has a clear operational strategy to tie in prevention, screening and management of affected populations within the larger framework of Rashtriya Bal Swasthya Karyakram (RBSK). District hospitals and DEICs will be strengthened to provide daycare facilities.
The guidelines also provide for training of doctors, nurses, lab technicians and other health personnel for handling the hemoglobinopathies.
Given the rising incidence and prevalence of the hemoglobinopathies in India, this guideline is a timely document which will greatly benefit patients and families and minimize the prevalence of hemoglobinopathies in India.
- Prevention and Control of Hemoglobinopathies in India: Thalassemias, Sickle Cell Disease and other Variant Hemoglobins (2016). National Health Mission, Rashtriya Bal Swasthya Karyakram, Blood Cell. Ministry of Health and Family Welfare.