This is a cytogenetic study about sickle cell anemia. It includes the genetics, biochemical data of sickle cell anemia. SCA data in Kerala and India is also mentioned. Reference included.
2. INTRODUCTION
◦ Sickle cell anemia is a group of inherited red blood cell disorder that affects
hemoglobin, the protein that carries oxygen through the body.
◦ Normally RBCs are disc-shaped and flexible enough to move easily through
blood vessels. The SCA patient’s RBCs are crescent or sickle-shaped. These cells
are not flexible or won’t move easily.
◦ It can block blood flow to the rest body parts and blocked blood can lead to
stroke, eye problems, infections and episodes of pain called pain crises.
3. GENETICS &BIOCHEMICAL BASIS OF
SCA
◦ It is caused by a mutation in HBB gene, which
provides instructions for producing beta-
globulin subunit of hemoglobin. The mutation
result in production of an abnormal form of
hemoglobin called HbS.
◦ The HBB gene mutation responsible for SCA
involves a single nucleotide substitution.
http://www.passmyexams.co.uk/GCSE/biology/sickle-cell-anaemia.html
4. ◦ This alteration in the beta-globin protein structure causes RBC deformation and
assumes sickle shape under low-level oxygen or when cells are under stress.
◦ These sickle-shaped cells can clump together and obstruct blood flow, leading to
various complications such as pain crises, organ damage and anemia.
5. SCA IN KERALA
◦ The prevalence of SCA in Kerala varies across
different regions and communities within Kerala.
Some regions such as Wayanad, Idukki, and
Attappady have reported high
prevalence(relatively) due to the presence of
tribal populations.
◦ Most prevalent tribes are Irular, Paniyar,
Kurumba and Kattunayakan etc.
◦ The overall prevalence in Kerala is lower
compared to other states in India where the
disorder is common.
https://simple.wikipedia.org/wiki/List_of_districts_of_Kerala
6. ◦ In recent years, Government and healthcare organizations in Kerala have been
working towards raising awareness about SCA, implementing screening programs
and providing appropriate medical care for affected individuals.
◦ Efforts have been made to offer genetic counselling and prenatal testing to
families at risk, as well as to improve access to treatment and supportive care for
individuals with SCA.
7. SCA IN INDIA
◦ The prevalence of SCA in India is highest in
Madhya Pradesh 9, 61,492 sickle
heterozygotes and 67,861 sickle
homozygotes.
◦ 27 of the 45 districts in Madhya Pradesh fall
under the sickle cell belt and the prevalence
of HbS varies from 10 to 33 per cent.
https://www.researchgate.net/profile/Malay-
Mukherjee/publication/279727521/figure/fig1/AS:601747580018695@1520479211928/Fig-District-wise-
distribution-of-sickle-cell-trait-among-the-tribal-communities-in.png
8. ◦ Under National Health Mission, Government of India supports the states for
prevention and management of sickle cell disease as per their annual PIP proposals.
The Ministry also released technical operational guidelines for prevention and
control of hemoglobinopathies in 2016 including sickle cell anaemia.
◦ Sickle Cell Anemia Mission – CSIR-Indian Institute of Integrative Medicine
researching about sickle cell disease.
◦ Chhattisgarh Sickle Cell Institute, Raipur a dedicated Centre for treatment, research
and counselling and training for sickle cell disease.
9. REFERENCE
◦ nhlbi.nih.gov Sickle cell disease- What is Sickle cell disease?
◦ thehindu.com https://www.thehindu.com>kerala>article19699172
◦ M.Feroze, K P Aravindan- Sickle cell disease in Wayanad; Kerala: gene frequencies and disease
characteristics. PMID:11767218
◦ Colah, R. B., Mukherjee, M. B., Martin, S., & Ghosh, K. (2015). Sickle cell disease in tribal
populations in India. The Indian journal of medical research, 141(5), 509–515.
https://doi.org/10.4103/0971-5916.159492
◦ Posted On: 03 FEB 2023 5:09PM by PIB Delhi HFW/ PQ / Sickle Cell Disease/03 Feb 2023/9
Release ID: 1896039
◦ https://iiim.res.in › sickle-cell-anemia-mission
◦ https://www.scic.cg.nic.in/
