TY  - CHAP
M1  - Book, Section
TI  - The Burden of the Sickle Cell Gene in India
A1  - Italia, Yazdi
A1  - Jain, Dipty
A1  - Colah, Roshan
A1  - Italia, Khushnooma
A2  - Gladwin, Mark T.
A2  - Kato, Gregory J.
A2  - Novelli, Enrico M.
PY  - 2021
T2  - Sickle Cell Disease
AB  - The  burden  of  sickle  cell  disease  (SCD)  in  India  is  high.  SCD  is  widespread  not  only  among  the  indigenous  populations  but  also  among  the  scheduled  castes  and  other  backward  classes.  The  sickle  gene  is  linked  to  the  Asian  haplotype  with  high  fetal  hemoglobin  (HbF)  levels,  but  SCD  patients  have  an  extremely  diverse  clinical  presentation  in  different  regions  of  the  country.  The  frequency  of  associated  α  thalassemia  is  variable  in  different  populations,  and  this  also  modulates  the  severity  of  the  disease.  The  main  causes  of  morbidity  are  acute  or  chronic  painful  events,  infections,  and  anemia.  The  spectrum  of  bacterial  infections  in  Indian  SCD  patients  is  different  from  African  cohorts;  Staphylococcus  aureus,  Salmonella,  Klebsiella,  and  Escherichia  coli  are  more  commonly  seen.  Fixed  low-dose  hydroxyurea  therapy  has  been  effective  in  Indian  patients;  however,  compliance,  availability  of  the  drug,  and  accessibility  are  some  of  the  constraints.  The  Gujarat  SCD  control  program  has  served  as  a  model  for  community  screening  using  solubility  test  and  high-performance  liquid  chromatography  (HPLC)  analysis  followed  by  counseling  and  prenatal  diagnosis  in  different  states.  Some  challenges  include  limited  awareness  and  late  registration  in  antenatal  clinics.  Newborn  screening  programs  have  been  introduced  relatively  recently  in  a  few  states,  and  follow-up  of  birth  cohorts  will  help  to  understand  the  natural  history  of  SCD  in  India.  Curative  options  such  as  hematopoietic  stem  cell  transplantation  are  not  easily  available  to  these  economically  disadvantaged  populations  due  to  the  high  cost  and  lack  of  suitable  donors.  Different  government  initiatives  are  also  supporting  care  and  control  programs,  and  these  should  lead  to  a  national  registry  of  SCD  patients  in  India.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - hemonc.mhmedical.com/content.aspx?aid=1179345759
ER  -