Haemophilia A is an inherited bleeding disorder, commonly involve soft tissues and joints. Gastrointestinal tract
bleeding, are not uncommon but seldom highlighted. A 23-year-old male with underlying severe haemophilia A was
presented with a generalised abdominal pain for 2 days, abdominal distension, diarrhoea and vomiting. He did not
have any trauma to the abdomen. Abdominal examination revealed generalized tenderness with sign of guarding
on palpation. Laboratory investigations revealed isolated, prolonged activated partial thromboplastin time (APTT)
with normal total white blood cell count and haemoglobin level. In view of acute abdomen, which was not resolved
by conservative treatment, an emergency laparotomy was done with FVIII concentrate and recombinant factor VII
(rFVII) coverage. Intraoperative findings noted patchy gangrenous spots of about 30 cm in length in the small bowel.
Histopathology examination revealed an evidence of haemorrhage within the submucosal and intramuscularis layer
from the resected specimen. This case highlighted the possibility of gastrointestinal bleeding without prior trauma,
which can be presented as acute abdomen in severe haemophilia patient.
Transfusion procedures are always complicated by potential genetic mismatching between donor and recipient. Compatibility is determined by several major antigens, such as the ABO and Rhesus blood groups. Matching for other blood groups (Kell, Kidd, Duffy, and MNS), human platelet antigens, and human leukocyte antigens (HLAs) also contributes toward the successful transfusion outcomes, especially in multitransfused or highly immunized patients. All these antigens of tissue identity are highly polymorphic and thus present great challenges for finding suitable donors for transfusion patients. The ABO blood group and HLA markers are also the determinants of transplant compatibility, and mismatched antigens will cause graft rejection or graft-versus-host disease. Thus, a single and comprehensive registry covering all of the significant transfusion and transplantation antigens is expected to become an important tool in providing an efficient service capable of delivering safe blood and quickly locating matching organs/stem cells. This review article is intended as an accessible guide for physicians who care for transfusion-dependent patients. In particular, it serves to introduce the new molecular screening methods together with the biology of these systems, which underlies the tests.
Killer cell immunoglobulin-like receptors (KIRs) interact with polymorphic human leucocyte antigen (HLA) class I molecules, modulating natural killer (NK) cell functions and affecting both the susceptibility and outcome of immune-mediated diseases. The KIR locus is highly diverse in gene content, copy number and allelic polymorphism within individuals and across geographical populations. To analyse currently under-represented Asian and Pacific populations, we investigated the combinatorial diversity of KIR and HLA class I in 92 unrelated Malay and 75 Malaysian Chinese individuals from the Malay Peninsula. We identified substantial allelic and structural diversity of the KIR locus in both populations and characterized novel variations at each analysis level. The Malay population is more diverse than Malay Chinese, likely representing a unique history including admixture with immigrating populations spanning several thousand years. Characterizing the Malay population are KIR haplotypes with large structural variants present in 10% individuals, and KIR and HLA alleles previously identified in Austronesian populations. Despite the differences in ancestries, the proportion of HLA allotypes that serve as KIR ligands is similar in each population. The exception is a significantly reduced frequency of interactions of KIR2DL1 with C2+ HLA-C in the Malaysian Chinese group, caused by the low frequency of C2+ HLA. One likely implication is a greater protection from preeclampsia, a pregnancy disorder associated with KIR2DL1, which shows higher incidence in the Malay than in the Malaysian Chinese. This first complete, high-resolution, characterization of combinatorial diversity of KIR and HLA in Malaysians will form a valuable reference for future clinical and population studies.