Evaluation of Foetal Haemoglobin Status among Nigerian Patients with Sickle Cell Anaemia Using High Performance Liquid Chromatography.

BACKGROUND: Sickle cell anaemia (SCA, HbSS) is a genetic disorder of haemoglobin with marked variation in clinical manifestation. The aim of this study was to determine the foetal haemoglobin (HbF) status of patients with HbSS, compared with that of individuals with HbAS and HbAA control as well as to establish the relationship between HbF level and age and gender of the participants. METHODS: This was a cross-sectional study in which HbF values of known HbSS patients along with HbAS and HbAA controls were analysed using High Performance Liquid Chromatography. Socio-demographic and other information were obtained with the use of questionnaire. Data was analyzed using SPSS software, version 20.0. Ethical approval was obtained for the study. RESULTS: One hundred and two (102) participants were recruited for the study, comprising 60 patients with HbSS, 22 HbAS and 20 HbAA controls, with mean age of 11.0 years±9.6, 11.7 years ±8.8 and 12.3 years±8.1 respectively. There were 30 (61.2%) males and 30 (56.6%) females for HbSS group, 9 (18.4%) males and 13(24.5%) females for HbAS group and 10(20.4%) males and 10(18.9%) for HbAA group. Mean HbF level among HbSS participants was 8.0 ±6.1% and was significantly higher than that of HbAS (3.0 ±3.4%) and HbAA (2.2 ±4.1%) control (P<0.05). Mean HbF level was higher in children (<18 years) than adults (e"18 years) among HbSS, HbAS and HbAA participants, though not statistically significant (p >0.05). Mean HbF level was also higher among female HbSS, HbAS and HbAA groups compared to corresponding male groups, though only HbSS female group was significant (p = 0.031). CONCLUSION: Patients with HbSS have significantly higher HbF level than individuals with HbAS and HbAA. Foetal haemoglobin level tend to decrease with advancing age and higher in females. Increased HbF level may play a compensatory mechanism in sickling in HbSS, thus the use of agent that increase HbF level may improve clinical outcome.

CONTEXTE: L'anémie falciforme (SCA, HbSS) est un mal de l'hémoglobine avec une variation marquée de la manifestation. Le but de cette étude était de déterminer le fœtus le statut d'hémoglobine (HbF) des patients atteints d'HbSS, par rapport à celle des personnes ayant un contrôle de l'HbAS et de l'HbAA ainsi que établir la relation entre le taux d'HbF et l'âge et le sexe des participants. MÉTHODES: Il s'agissait d'une étude transversale dans laquelle l'HbF valeurs des patients HbSS connus ainsi que l'HbAS et l'HbAA les contrôles ont été analysés à l'aide d'un liquide haute performance Chromatographie. Informations sociodémographiques et autres ont été obtenus à l'aide d'un questionnaire. Les données ont été analysées à l'aide du logiciel SPSS, version 20.0. L'approbation éthique a été obtenue pour l'étude. RÉSULTATS: Cent deux (102) participants ont été recrutés pour l'étude, comprenant 60 patients avec HbSS, 22 HbAS et 20 contrôles HbAA, avec un âge moyen de 11,0 ans ± 9,6, 11,7 ans ± 8,8 et 12,3 ans ± 8,1 respectivement. Il y avait 30 (61,2%) hommes et 30 femmes (56,6%) pour le groupe HbSS, 9 hommes (18,4%) et 13 femmes (24,5%) pour le groupe HbAS et 10 hommes (20,4%) et 10 (18,9%) pour le groupe HbAA. Niveau moyen d'HbF parmi l'HbSS participants était de 8,0 ± 6,1% et était significativement plus élevé que celle du contrôle HbAS (3,0 ± 3,4%) et HbAA (2,2 ± 4,1%) (p <0,05). Le taux moyen d'HbF était plus élevé chez les enfants (<18 ans) que chez les adultes (e "18 ans) chez les participants HbSS, HbAS et HbAA, cependant non statistiquement significatif (p> 0,05). Le taux moyen d'HbF était également plus élevé parmi les groupes féminins HbSS, HbAS et HbAA par rapport aux groupes masculins correspondants, mais seulement au groupe féminin HbSS était significative (p = 0,031). CONCLUSION: Les patients atteints d'HbSS ont des Taux d'HbF que les individus avec HbAS et HbAA. Fœtal le taux d'hémoglobine a tendance à diminuer avec l'âge et plus élevé chez les femmes. L'augmentation du niveau d'HbF peut jouer un rôle compensatoire mécanisme de la faucille dans l'HbSS, donc l'utilisation d'un agent qui l'augmentation du taux d'HbF peut améliorer les résultats cliniques. Mots clés: hémoglobine fœtale, liquide haute performance Chromatographie, drépanocytose, traits drépanocytaires, normaux l'hémoglobine adulte.

Detection of BCR-ABL1 fusion gene transcripts in the saliva of Nigerian patients with chronic myeloid leukemia.

BACKGROUND: The presence of BCR-ABL1 fusion gene resulting from a t(9; 22) reciprocal chromosome translocation is the molecular hallmark of chronic myeloid leukemia (CML). In the diagnosis and treatment of CML, peripheral blood or bone marrow samples are usually taken for analysis. However, both methods are invasive sample collection methods, thus a noninvasive saliva sample method for the detection of the fusion gene transcripts (BCR-ABL) was investigated in some Nigerians with CML. MATERIALS AND METHODS: Real-time (RT)-polymerase chain reaction (PCR) analysis was used to detect BCR-ABL1 fusion gene in the saliva and blood of 42 Nigerian CML patients. RNA was extracted using RNeasy kit and reverse transcribed by random hexamer priming using murine Moloney reverse transcriptase. BCR-ABL1 transcript types were first detected by multiplex PCR and then quantified by a duplex RT-PCR-TaqMan chemistry with MGB probe and Black Hole Quencher. RESULTS: Of the 42 subjects, transcript types were detected in 36 (85.7%) samples, e13a2 fusion transcript sub-type was detected in 9 (21.4%), whereas e14a2 subtype was found in 27 (67.3%); six (14.3%) of the samples did not reveal any of the fusion transcript subtypes. The median BCR-ABL1 messenger RNA values were 9.38 × 102 in saliva and 10.29 × 104 in blood (P < 0.05). Similarly, the median ABL1 value in saliva (3.11 × 103) was significantly lower (P < 0.01) than in blood (4.22 × 103). However, the median BCR-ABL1 ratio in saliva (14.5%) was not significantly different (P = 0.8) from that of blood (12.0%). CONCLUSION: Saliva may offer an alternative easy-to-collect, readily available, and noninvasive sample for the diagnosis and treatment of CML.

Assessing the reliability of microscopy and rapid diagnostic tests in malaria diagnosis in areas with varying parasite density among older children and adult patients in Nigeria.

BACKGROUND: Current malaria control strategies are based on early diagnosis and appropriate treatment of malaria cases. The study aimed at comparing the performance of blood film microscopy and rapid diagnostic test (RDT) in Plasmodium falciparum detection in patients ≥6 years of age. MATERIALS AND METHODS: A total of 154 consecutive pyretic patients aged 6-62 years were enrolled, sampled, and tested for malaria using RDT (first response) and microscopy by Giemsa staining. Genomic DNA was extracted after saponin hemolysis and nested polymerase chain reaction (PCR) was used to detect Plasmodium falciparum. The endpoints were sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). RESULTS: Of the 154 patients, 80 (51.9%) had fever of ≥37.5°C. 106 (68.8%) were positive by First response® , 132 (85.7%) by microscopy, and 121 (78.6%) by PCR. The sensitivity, specificity, PPV, and NPV of first response compared to microscopic method were 82.2%, 100.0%, 100.0%, and 34.3%, respectively, while it was 75.4%, 75.0%, 95.3%, and 31.2%, respectively, when compared to PCR. The sensitivity, specificity, PPV, and NPV of the microscopic method compared to PCR were 92.3%, 50.0%, 90.91%, and 54.5%, respectively. There was a significant difference in the performance of RDT and film microscopy methods (P ≤ 0.05). CONCLUSION: Microscopy performed better and is more reliable than first response (RDT) in areas with low parasite density among patients ≥6 years of age. Rapid diagnostic tests could be useful in aareas with high parasite density as an alternative to smear microscopy.