Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing.
This document considers a number of scenarios involving complex haemoglobinopathies and provides 28 recommendations at both the clinical and laboratory levels on how these should be managed.
Trent
Ronald J
RJ
Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital in the Central Clinical School, University of Sydney, New South Wales, Australia. rtrent@med.usyd.edu.au
Webster
Boyd
B
Bowden
Donald K
DK
Gilbert
Anne
A
Holl
P Joy
PJ
Lindeman
Robert
R
Lammi
Ahti
A
Rowell
John
J
Hinchcliffe
Marcus
M
Colley
Alison
A
Wilson
Meredith
M
Saleh
Mona
M
Blackwell
Jennifer
J
Petrou
Vicki
V
D004247:DNA / Q000032:analysis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006451:Hemoglobin, Sickle / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics
D006451:Hemoglobin, Sickle; D004247:DNA