ABSTRACT
Background. FISH is a molecular cytogenetic technique enabling rapid detection of genetic abnormalities. Facilities that can run fresh/wet samples for molecular diagnosis and monitoring of neoplastic disorders are not readily available in Ghana and other neighbouring countries. This study aims to demonstrate that interphase FISH can successfully be applied to archival methanol-fixed bone marrow and peripheral blood smear slides transported to a more equipped facility for molecular diagnosis of CML. Methods. Interphase FISH was performed on 22 archival methanol-fixed marrow (BM) and 3 peripheral blood (PB) smear slides obtained at diagnosis. The BM smears included 20 CML and 2 CMML cases diagnosed by morphology; the 3 PB smears were from 3 of the CML patients at the time of diagnosis. Six cases had known BCR-ABL fusion results at diagnosis by RQ-PCR. Full blood count reports at diagnosis were also retrieved. Result. 19 (95%) of the CML marrow smears demonstrated the BCR-ABL translocation. There was a significant correlation between the BCR-ABL transcript detected at diagnosis by RQ-PCR and that retrospectively detected by FISH from the aged BM smears at diagnosis (r = 0.870; P = 0.035). Conclusion. Archival methanol-fixed marrow and peripheral blood smears can be used to detect the BCR-ABL transcript for CML diagnosis.
ABSTRACT
INTRODUCTION: Sickle cell disease is a collection of autosomal recessive genetic disorders. It includes homozygous HbSS and double heterozygote combinations such as HbSC. Central and West Africa bears a significant burden of HbSC disease. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen concentration (FC) and platelet count (PC) were determined in 41 HbSC and HbSS patients in steady state along with 40 apparently healthy HbAA controls. One way ANOVA test was used to compare means; p values< 0.05 were considered statistically significant. RESULTS: There was no significant difference in mean PT for the study groups (p = 0.192). Mean PC was highest in HbSS patients: 445.7 +/- 128.3 X 10 9/ L compared to HbSC: 330.0 +/- 97.7 X 10 9/ L and HbAA:245 +/- 77.7 X 10 9/ L (p = 0.000). Mean APTT was 28.1 +/- 3.8 seconds in controls,24.1 + /- 66 seconds in HbSS patients and 21.8 +/- 3.8 seconds in HbSC patients (p = 0.000). Mean FC in HbSS was 1.6 +/- 0.7 g/L, 3.2 +/- 0.6 g/L in HbSC and 2.9 +/- 0.4 g/L in HbAA (p = 0.000). CONCLUSION: A significant difference exists in PC, APTT and FC in HbSC patients compared to HbSS patients and HbAA controls. Elevated FC and shortened APTT may play a role in complications more characteristic of HbSC such as retinopathy and osteonecrosis. These suggest HbSC is not merely a milder form of HbSS; both diseases should be seen as different entities with regards to approaches for management.
