TY - JOUR
T1 - Coexistence of sickle cell disease and severe congenital neutropenia
T2 - First impressions can be deceiving
AU - Wali, Yasser
AU - Beshlawi, Ismail
AU - Fawaz, Naglaa
AU - Alkhayat, Aisha
AU - Zalabany, Mahmoud
AU - Elshinawy, Mohamed
AU - Al-Kindi, Salam
AU - Al-Rawas, Abdul Hakim A.
AU - Klein, Christoph
PY - 2012/9
Y1 - 2012/9
N2 - We report an Omani family in whom the propositus had a rare coexistence of sickle cell disease and severe congenital neutropenia associated with a mutation in ELANE. In contrast to his siblings with sickle cell disease, the severity of HbSS-associated complications such as painful crises and acute chest syndrome was significantly reduced. His course of the disease had markedly worsened after initiating G-CSF therapy. These clinical observations suggest that neutropenia may ameliorate inflammatory responses and thus display a modulating factor with respect to the clinical course of sickle cell disease.
AB - We report an Omani family in whom the propositus had a rare coexistence of sickle cell disease and severe congenital neutropenia associated with a mutation in ELANE. In contrast to his siblings with sickle cell disease, the severity of HbSS-associated complications such as painful crises and acute chest syndrome was significantly reduced. His course of the disease had markedly worsened after initiating G-CSF therapy. These clinical observations suggest that neutropenia may ameliorate inflammatory responses and thus display a modulating factor with respect to the clinical course of sickle cell disease.
KW - Severe congenital neutropenia
KW - Sickle
UR - http://www.scopus.com/inward/record.url?scp=84865153963&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84865153963&partnerID=8YFLogxK
U2 - 10.1111/j.1600-0609.2012.01827.x
DO - 10.1111/j.1600-0609.2012.01827.x
M3 - Article
C2 - 22758217
AN - SCOPUS:84865153963
SN - 0902-4441
VL - 89
SP - 245
EP - 249
JO - European Journal of Haematology
JF - European Journal of Haematology
IS - 3
ER -