Literature DB >> 16096206

The global problem of genetic disease.

D J Weatherall1.   

Abstract

Inherited haemoglobin disorders will undoubtedly cause an increasing health burden in many developing countries. Although much is known about their molecular pathology and the mechanisms for their phenotypic diversity, many important questions remain, not least the role of the environment in modifying the clinical course. Methods for screening these conditions are now well established and inexpensive and it is vital that they are applied to define the magnitude of the problem that will be posed by these conditions in the future. Similarly, they form the basis for widespread screening and counselling programmes directed at developing prenatal diagnosis expertise where this is not available. Answers to some relatively simple questions about the role of the environment could also make a major difference to the management of the haemoglobin disorders. There is a major case for the development of regional networks to apply such technology as has been developed for the control and prevention of the important haemoglobin disorders, particularly in Asian countries.

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Year:  2005        PMID: 16096206     DOI: 10.1080/03014460500075480

Source DB:  PubMed          Journal:  Ann Hum Biol        ISSN: 0301-4460            Impact factor:   1.533


  11 in total

1.  Using Red Cell Indices and Reticulocyte Parameters for Carrier Screening of Various Thalassemia Syndromes.

Authors:  Orathai Tangvarasittichai; Nares Poonanan; Surapon Tangvarasittichai
Journal:  Indian J Clin Biochem       Date:  2016-05-09

2.  Screening and counseling for thalassemia.

Authors:  David H K Chui; Melody J Cunningham; Hong-Yuan Luo; Lawrence C Wolfe; Ellis J Neufeld; Martin H Steinberg
Journal:  Blood       Date:  2006-02-15       Impact factor: 22.113

Review 3.  Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies.

Authors:  Vigneshwaran Venkatesan; Saranya Srinivasan; Prathibha Babu; Saravanabhavan Thangavel
Journal:  Mol Cell Biol       Date:  2020-12-21       Impact factor: 4.272

4.  A holistic approach to education programs in thalassemia for a multi-ethnic population: consideration of perspectives, attitudes, and perceived needs.

Authors:  Li Ping Wong; Elizabeth George; Jin-Ai Mary Anne Tan
Journal:  J Community Genet       Date:  2011-02-24

5.  Association of Iron Overload with Oxidative Stress, Hepatic Damage and Dyslipidemia in Transfusion-Dependent β-Thalassemia/HbE Patients.

Authors:  Chintana Sengsuk; Orathai Tangvarasittichai; Prasert Chantanaskulwong; Ampai Pimanprom; Somsak Wantaneeyawong; Anuchit Choowet; Surapon Tangvarasittichai
Journal:  Indian J Clin Biochem       Date:  2013-08-29

Review 6.  Epigenetics of beta-globin gene regulation.

Authors:  Christine M Kiefer; Chunhui Hou; Jane A Little; Ann Dean
Journal:  Mutat Res       Date:  2008-08-07       Impact factor: 2.433

Review 7.  Understanding what determines the frequency and pattern of human germline mutations.

Authors:  Norman Arnheim; Peter Calabrese
Journal:  Nat Rev Genet       Date:  2009-07       Impact factor: 53.242

Review 8.  Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.

Authors:  Norman Arnheim; Peter Calabrese
Journal:  Annu Rev Genomics Hum Genet       Date:  2016-04-08       Impact factor: 8.929

9.  Nutritional status, hospitalization and mortality among patients with sickle cell anemia in Tanzania.

Authors:  Sharon E Cox; Julie Makani; Anthony J Fulford; Albert N Komba; Deogratius Soka; Thomas N Williams; Charles R Newton; Kevin Marsh; Andrew M Prentice
Journal:  Haematologica       Date:  2011-04-01       Impact factor: 9.941

10.  Nutritional and Hematological Status of Sudanese Women of Childbearing Age with Steady-state Sickle Cell Anemia.

Authors:  Eltigani Hassan Ali; Salam Alkindi; Mohamed A Osman; Wafa Hilali; Hind M Mirgani; Gareeba Adam; Magdi M Morsi; Izzeldin S Hussein; Kebreab Ghebremeskel
Journal:  Oman Med J       Date:  2021-05-31
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