Molecular aspects of the common types of ß-thalassemia mutations among Sudanese patients: a cross sectional study.

OBJECTIVE: The study sought to identify the most common types of mutations in beta-thalassemia Sudanese patients in Khartoum State, as well as their relationship to anemia severity. PATIENTS AND METHODS: From July 2017 to July 2021, a cross-sectional study was conducted on 100 samples from known beta-thalassemia patients attending public health hospitals in Khartoum State, and fifty samples were taken from apparently healthy controls. Using a PCR test, blood samples were analyzed to detect the most common types of mutations. RESULTS: For the five mutations included in the study (IVS-I-110(G-A), IVS-I-1(G-A), IVS-I-6(T-C), IVS-I-5(G-C), and ß_87(C-G)), 25% of the patients were positive and 75% were negative, while the entire control group was negative for all five mutations. Positive results were found in only three of the five mutations tested; the most common was IVS-I-110, which was found in 14 (56%) of the subjects, followed by IVS-I-6 (T) in 7 (28%), and IVS-I-1 in only 4 (16%) of the subjects. IVS-I-5 and ß_87 mutations were not found in the study subjects. The Hb electrophoresis pattern revealed an increase in HbA2 (6.455±0.1318%), a decrease in HbF (1.865±0.1668%), and a decrease in HbA (78.50±0.2858%). The mean serum iron level was 82.99±3.063 ug/dL, which was considered normal. CONCLUSIONS: According to the findings, the IVS-1-110 mutation is the most common among Sudanese beta-thalassemia patients. Each type of positive mutation caused mild to moderate anemia.

Influence of COVID-19 on lymphocyte and platelet parameters among patients admitted to intensive care unit and emergency.

OBJECTIVE: The aim of the study was to detect the effect of COVID-19 on lymphocyte and platelet parameters among Sudanese patients admitted to Intensive Care unit (ICU) and emergency (ER). PATIENTS AND METHODS: This cross-sectional study was carried out on a total of 787 Sudanese individuals (487 confirmed COVID-19 cases and 300 apparently healthy individuals as controls, in duration between April 2020 to December 2020). Platelets (PLTs) and platelet indices, mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit (PCT) and platelet larger cell ratio (PLCR) were investigated as part of the complete blood count (CBC) for the case and control group. Also, the neutrophil lymphocyte ratio (NLR) and platelet lymphocyte ratio (PLR) were calculated, and the results were statistically analyzed by SPSS version 21. RESULTS: The severity of the disease was also affected by the patient's age: 262 COVID-19 cases admitted to ICU were over 50 years old, compared to only four patients in the mild group. Regarding hematological parameters, the absolute lymphocyte count, PLTs, MPV, PDW, and P-LCR were significantly different between cases and control groups (p-values = 0.000, 0.002, 0.000, 0.000, and 0.000, respectively). PLR and NLR levels were found to be significantly higher as disease severity increased; p-values = 0.000 and 0.000, respectively. The study also demonstrated that lymphopenia was associated with severe COVID-19 infection (in 93% of ICU patients, 59.9% of ER, and 9% of the mild group), while thrombocytopenia was detected only among 30.8% of ICU patients. CONCLUSIONS: Lymphopenia and thrombocytopenia are associated with severe COVID-19 infection. NLR and PLR were markedly increased with COVID-19.