TY - JOUR
T1 - Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia
AU - Ong, Shin Yeu
AU - Li, Shao Tzu
AU - Wong, Gee Chuan
AU - Ho, Aloysius Yew Leng
AU - Nagarajan, Chandramouli
AU - Ngeow, Joanne
N1 - Publisher Copyright:
© 2018
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies.
AB - Inherited bone marrow failure syndrome (IBMFS) including Shwachman Diamond Syndrome (SDS) can present initially to the hematologist with myelodysplastic syndrome (MDS). Accurate diagnosis affects choice of chemotherapy, donor selection, and transplant conditioning. We report a case of delayed diagnosis of SDS in a family with another child with aplastic anemia, and review reported cases of SDS in Asia. This highlights the gap in identifying inherited bone marrow failure syndromes in adults with hematologic malignancies.
KW - Inherited bone marrow failure syndrome
KW - Shwachman diamond syndrome
KW - Telomere
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U2 - 10.1016/j.lrr.2018.04.002
DO - 10.1016/j.lrr.2018.04.002
M3 - Article
AN - SCOPUS:85045455015
SN - 2213-0489
VL - 9
SP - 54
EP - 57
JO - Leukemia Research Reports
JF - Leukemia Research Reports
ER -