Yazdi Italia1, Lakshmanan Krishnamurti2, Vishal Mehta1, Bhavesh Raicha1, Khushnooma Italia3, Pallavi Mehta3, Kanjaksha Ghosh3, Roshan Colah4. 1. Valsad Raktdan Kendra, Valsad 396001, India. 2. Children's Hospital of Pittsburgh of UPMC, 4401 Penn Ave, Pittsburgh, PA 15224, United States. 3. National Institute of Immunohaematology, 13 Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India. 4. National Institute of Immunohaematology, 13 Floor, K.E.M. Hospital Campus, Parel, Mumbai 400 012, India colahrb@gmail.com.
Abstract
OBJECTIVES: To evaluate the feasibility of a newborn screening and follow-up programme for sickle cell disease (SCD) among tribal populations of south Gujarat, India. METHODS: A total of 5467 newborn babies were screened over 2 years using High-performance liquid chromatography, with diagnosis by molecular analysis. The SCD babies were followed-up clinically and haematologically regularly for 1.5 to 5 years to describe the course of the disease. RESULTS: Thirty-three babies (0.60%) were sickle homozygous, 13 (0.23%) were-sickle-β-thalassaemia, 687 (12.5%) were sickle heterozygous, and 4736 were unaffected. The parents of SCD babies were educated and counselled for home care. There were 32 babies (69.5%) who could be clinically and haematologically followed-up; 7 babies (21.8%) presented with severe clinical complications, whereas 18 (56.2%) babies were asymptomatic till the last follow-up. The variation in clinical presentation was seen in spite of the presence of ameliorating factors, such as high fetal haemoglobin, Xmn-I polymorphism, and α-thalassaemia. CONCLUSION: In addition to demonstrating the possibility of establishing a newborn screening programme for sickle cell disorders among tribal populations, this study has shown that the disease is not always mild among tribal groups in India, as previously believed. There is a need, therefore, for increasing awareness among these tribal groups about the disease, and for regular monitoring of affected babies to reduce morbidity and mortality and to understand the natural course of the disease.
OBJECTIVES: To evaluate the feasibility of a newborn screening and follow-up programme for sickle cell disease (SCD) among tribal populations of south Gujarat, India. METHODS: A total of 5467 newborn babies were screened over 2 years using High-performance liquid chromatography, with diagnosis by molecular analysis. The SCD babies were followed-up clinically and haematologically regularly for 1.5 to 5 years to describe the course of the disease. RESULTS: Thirty-three babies (0.60%) were sickle homozygous, 13 (0.23%) were-sickle-β-thalassaemia, 687 (12.5%) were sickle heterozygous, and 4736 were unaffected. The parents of SCD babies were educated and counselled for home care. There were 32 babies (69.5%) who could be clinically and haematologically followed-up; 7 babies (21.8%) presented with severe clinical complications, whereas 18 (56.2%) babies were asymptomatic till the last follow-up. The variation in clinical presentation was seen in spite of the presence of ameliorating factors, such as high fetal haemoglobin, Xmn-I polymorphism, and α-thalassaemia. CONCLUSION: In addition to demonstrating the possibility of establishing a newborn screening programme for sickle cell disorders among tribal populations, this study has shown that the disease is not always mild among tribal groups in India, as previously believed. There is a need, therefore, for increasing awareness among these tribal groups about the disease, and for regular monitoring of affected babies to reduce morbidity and mortality and to understand the natural course of the disease.
Authors: Frazer A Tessema; Gabrielle Lapping-Carr; Murtala I Affini; Isaiah K Selkridge; Akosua Y Oppong; Tanisha A Jones; Tanya Zakrison Journal: Trauma Surg Acute Care Open Date: 2022-06-05
Authors: Dipti S Upadhye; Dipty L Jain; Yogesh L Trivedi; Anita H Nadkarni; Kanjaksha Ghosh; Roshan B Colah Journal: PLoS One Date: 2016-01-19 Impact factor: 3.240
Authors: Nicholas Kassebaum; Hmwe Hmwe Kyu; Leo Zoeckler; Helen Elizabeth Olsen; Katie Thomas; Christine Pinho; Zulfiqar A Bhutta; Lalit Dandona; Alize Ferrari; Tsegaye Tewelde Ghiwot; Simon I Hay; Yohannes Kinfu; Xiaofeng Liang; Alan Lopez; Deborah Carvalho Malta; Ali H Mokdad; Mohsen Naghavi; George C Patton; Joshua Salomon; Benn Sartorius; Roman Topor-Madry; Stein Emil Vollset; Andrea Werdecker; Harvey A Whiteford; Kalkidan Hasen Abate; Kaja Abbas; Solomon Abrha Damtew; Muktar Beshir Ahmed; Nadia Akseer; Rajaa Al-Raddadi; Mulubirhan Assefa Alemayohu; Khalid Altirkawi; Amanuel Alemu Abajobir; Azmeraw T Amare; Carl A T Antonio; Johan Arnlov; Al Artaman; Hamid Asayesh; Euripide Frinel G Arthur Avokpaho; Ashish Awasthi; Beatriz Paulina Ayala Quintanilla; Umar Bacha; Balem Demtsu Betsu; Aleksandra Barac; Till Winfried Bärnighausen; Estifanos Baye; Neeraj Bedi; Isabela M Bensenor; Adugnaw Berhane; Eduardo Bernabe; Oscar Alberto Bernal; Addisu Shunu Beyene; Sibhatu Biadgilign; Boris Bikbov; Cheryl Anne Boyce; Alexandra Brazinova; Gessessew Bugssa Hailu; Austin Carter; Carlos A Castañeda-Orjuela; Ferrán Catalá-López; Fiona J Charlson; Abdulaal A Chitheer; Jee-Young Jasmine Choi; Liliana G Ciobanu; John Crump; Rakhi Dandona; Robert P Dellavalle; Amare Deribew; Gabrielle deVeber; Daniel Dicker; Eric L Ding; Manisha Dubey; Amanuel Yesuf Endries; Holly E Erskine; Emerito Jose Aquino Faraon; Andre Faro; Farshad Farzadfar; Joao C Fernandes; Daniel Obadare Fijabi; Christina Fitzmaurice; Thomas D Fleming; Luisa Sorio Flor; Kyle J Foreman; Richard C Franklin; Maya S Fraser; Joseph J Frostad; Nancy Fullman; Gebremedhin Berhe Gebregergs; Alemseged Aregay Gebru; Johanna M Geleijnse; Katherine B Gibney; Mahari Gidey Yihdego; Ibrahim Abdelmageem Mohamed Ginawi; Melkamu Dedefo Gishu; Tessema Assefa Gizachew; Elizabeth Glaser; Audra L Gold; Ellen Goldberg; Philimon Gona; Atsushi Goto; Harish Chander Gugnani; Guohong Jiang; Rajeev Gupta; Fisaha Haile Tesfay; Graeme J Hankey; Rasmus Havmoeller; Martha Hijar; Masako Horino; H Dean Hosgood; Guoqing Hu; Kathryn H Jacobsen; Mihajlo B Jakovljevic; Sudha P Jayaraman; Vivekanand Jha; Tariku Jibat; Catherine O Johnson; Jost Jonas; Amir Kasaeian; Norito Kawakami; Peter N Keiyoro; Ibrahim Khalil; Young-Ho Khang; Jagdish Khubchandani; Aliasghar A Ahmad Kiadaliri; Christian Kieling; Daniel Kim; Niranjan Kissoon; Luke D Knibbs; Ai Koyanagi; Kristopher J Krohn; Barthelemy Kuate Defo; Burcu Kucuk Bicer; Rachel Kulikoff; G Anil Kumar; Dharmesh Kumar Lal; Hilton Y Lam; Heidi J Larson; Anders Larsson; Dennis Odai Laryea; Janni Leung; Stephen S Lim; Loon-Tzian Lo; Warren D Lo; Katharine J Looker; Paulo A Lotufo; Hassan Magdy Abd El Razek; Reza Malekzadeh; Desalegn Markos Shifti; Mohsen Mazidi; Peter A Meaney; Kidanu Gebremariam Meles; Peter Memiah; Walter Mendoza; Mubarek Abera Mengistie; Gebremichael Welday Mengistu; George A Mensah; Ted R Miller; Charles Mock; Alireza Mohammadi; Shafiu Mohammed; Lorenzo Monasta; Ulrich Mueller; Chie Nagata; Aliya Naheed; Grant Nguyen; Quyen Le Nguyen; Elaine Nsoesie; In-Hwan Oh; Anselm Okoro; Jacob Olusegun Olusanya; Bolajoko O Olusanya; Alberto Ortiz; Deepak Paudel; David M Pereira; Norberto Perico; Max Petzold; Michael Robert Phillips; Guilherme V Polanczyk; Farshad Pourmalek; Mostafa Qorbani; Anwar Rafay; Vafa Rahimi-Movaghar; Mahfuzar Rahman; Rajesh Kumar Rai; Usha Ram; Zane Rankin; Giuseppe Remuzzi; Andre M N Renzaho; Hirbo Shore Roba; David Rojas-Rueda; Luca Ronfani; Rajesh Sagar; Juan Ramon Sanabria; Muktar Sano Kedir Mohammed; Itamar S Santos; Maheswar Satpathy; Monika Sawhney; Ben Schöttker; David C Schwebel; James G Scott; Sadaf G Sepanlou; Amira Shaheen; Masood Ali Shaikh; June She; Rahman Shiri; Ivy Shiue; Inga Dora Sigfusdottir; Jasvinder Singh; Naris Silpakit; Alison Smith; Chandrashekhar Sreeramareddy; Jeffrey D Stanaway; Dan J Stein; Caitlyn Steiner; Muawiyyah Babale Sufiyan; Soumya Swaminathan; Rafael Tabarés-Seisdedos; Karen M Tabb; Fentaw Tadese; Mohammad Tavakkoli; Bineyam Taye; Stephanie Teeple; Teketo Kassaw Tegegne; Girma Temam Shifa; Abdullah Sulieman Terkawi; Bernadette Thomas; Alan J Thomson; Ruoyan Tobe-Gai; Marcello Tonelli; Bach Xuan Tran; Christopher Troeger; Kingsley N Ukwaja; Olalekan Uthman; Tommi Vasankari; Narayanaswamy Venketasubramanian; Vasiliy Victorovich Vlassov; Elisabete Weiderpass; Robert Weintraub; Solomon Weldemariam Gebrehiwot; Ronny Westerman; Hywel C Williams; Charles D A Wolfe; Rachel Woodbrook; Yuichiro Yano; Naohiro Yonemoto; Seok-Jun Yoon; Mustafa Z Younis; Chuanhua Yu; Maysaa El Sayed Zaki; Elias Asfaw Zegeye; Liesl Joanna Zuhlke; Christopher J L Murray; Theo Vos Journal: JAMA Pediatr Date: 2017-06-01 Impact factor: 16.193
Authors: Frédéric B Piel; Thomas V Adamkiewicz; Djesika Amendah; Thomas N Williams; Sunetra Gupta; Scott D Grosse Journal: Genet Med Date: 2015-12-03 Impact factor: 8.822