To send content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about sending content to .
To send content items to your Kindle, first ensure firstname.lastname@example.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about sending to your Kindle.
Note you can select to send to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
In this chapter we describe three relatively rare, clinically complex syndromes in which the occurrence of α thalassemia provided the clue to understanding the molecular basis of each condition. These conditions exemplify the important interplay between clinical observation and human molecular genetics. Two of these syndromes (ATR-16 [OMIM: 141750] and ATR-X [OMIM: 301040]) in which α thalassemia is associated with multiple developmental abnormalities (including mental retardation, MR) are inherited. The third condition (ATMDS [OMIM: 300448]) is an acquired disorder in which α thalassemia appears for the first time in the context of myelodysplasia.
α THALASSEMIA ASSOCIATED WITH MENTAL RETARDATION AND DEVELOPMENTAL ABNORMALITIES
The rare association of α thalassemia and mental retardation (MR) was recognized more than 25 years ago by Weatherall and colleagues. It was known that α thalassemia arises when there is a defect in the synthesis of the α-globin chains of adult hemoglobin (HbA, α2β2). When these authors encountered three mentally retarded children with α thalassemia and a variety of developmental abnormalities, their interest was stimulated by the unusual nature of the α thalassemia. The children were of northern European origin, where α thalassemia is uncommon, and although one would have expected to find clear signs of this inherited anemia in their parents, it appeared to have arisen de novo in the affected offspring. It was thought that the combination of α thalassemia with MR (ATR), and the associated developmental abnormalities represented a new syndrome and that a common genetic defect might be responsible for the diverse clinical manifestations.
Email your librarian or administrator to recommend adding this to your organisation's collection.