Methemoglobinemia (MetHb) is a rare, life-threatening condition that occurs when the body is exposed to oxidative stress. It is typically corrected through the glucose-6-phosphate dehydrogenase (G6PD)-dependent shunt. G6PD deficiency is the most common enzymatic deficiency worldwide. This genetic disorder makes patients susceptible to oxidative stress and reduces the expected life span of erythrocytes (red blood cells (RBCs)) among other cells. G6PD deficiency is asymptomatic in most cases unless exogenous stressors are introduced, whether they are dietary, iatrogenic, or infections, such as the highly transmissible serotype of coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).We report a case of an 11-year-old male with known insulin-dependent diabetes mellitus (IDDM) and glucose-6-phosphate dehydrogenase (G6PD) deficiency, who was found to develop methemoglobinemia after being infected by the SARS-CoV-2 virus.The direct effects of COVID-19 on children were reported to be lower than on adults. However, the effects of COVID-19 on children with comorbidities, such as G6PD deficiency in our patient, are understood only to a minimal extent. Moreover, identifying cases of G6PD deficiency prior to initiating treatment with methylene blue, hydroxychloroquine (HCQ), or other contraindicated agents is essential to prevent further deterioration in symptoms.

Background: SARS-CoV-2 infection has a high mortality rate and continues to be a global threat, which warrants the identification of all mortality risk factors in critically ill patients. Methods: This is a retrospective multicenter cohort study conducted in five hospitals in the Kingdom of Saudi Arabia (KSA). We enrolled patients with confirmed SARS-COV-2 infection admitted to any of the intensive care units from the five hospitals between March 2020 and July 2020, corresponding to the peak of recorded COVID-19 cases in the KSA. Results: In total, 229 critically ill patients with confirmed SARS-CoV-2 infection were included in the study. The presenting symptoms and signs of patients who died during hospitalization were not significantly different from those observed among patients who survived. The baseline comorbidities that were significantly associated with in-hospital mortality were diabetes (62% vs. 48% among patients who died and survived (p = 0.046)), underlying cardiac disease (38% vs. 19% (p = 0.001)), and underlying kidney disease (32% vs. 12% (p < 0.001)). Conclusion: In our cohort, the baseline comorbidities that were significantly associated with in-hospital mortality were diabetes, underlying cardiac disease, and underlying kidney disease. Additionally, the factors that independently influenced mortality among critically ill COVID-19 patients were high Activated Partial Thromboplastin Time (aPTT )and international normalization ratio (INR), acidosis, and high ferritin.

Hepatobiliary manifestation of COVID-19 in Sickle Cell Disease: A Case report. Background and aim: SARS-CoV-2 belongs to the Coronaviridae family, and the virus began spreading worldwide in late December 2019. It mainly affects the respiratory system. However, some studies have shown an increasing number of patients reporting gastrointestinal manifestations associated with COVID-19. There is little clinical experience of COVID-19 patients with sickle cell disease (SCD) especially in our country, and most reported cases presented with acute chest syndrome (ACS). Sickle cell hepatopathy is common and ranges from benign hyperbilirubinemia and biliary sludge to overt liver failure, but it is unclear how this is affected by COVID-19. Case presentation: We report a case of a 5-year-old Saudi, non-obese female who was diagnosed as sickle B+ thalassemia (HbS: 71.9%, HbA 1.4%, HbA2: 6 & HbF: 20.7%) and was on hydroxyurea, folic acid, and vitamin D. The child came to our Emergency Department on 28/7/2020 with a one-week history of generalized abdominal pain related to the food ingestion and associated with vomiting and diarrhea. There is a history of jaundice, dark urine, and clay-like stool. There was no documented fever, history of cough, or respiratory distress. There was a history of contact with Covid-19 patient. On clinical examination, the child was vitally stable but jaundiced. She was in pain with tenderness over the right part of the abdomen but no organomegaly; other systematic examinations were normal. Her initial laboratory finding showed elevated liver enzyme (ALT: 148U/L, AST: 89U/L, GGT:150U/L, ALP:149U/L) with direct hyperbilirubinemia (total bilirubin 4.5mg/dl and direct bilirubin 2.6 mg/dl), high reticulocyte, and stable hemoglobin (10 mg/dl). She had a normal leukocyte count, platelet count, inflammatory markers, and pancreatic enzymes. Her abdominal U/S showed no hepatic focal lesions detected with normal size liver and no evidence of intrahepatic bile duct dilatation. In addition, the common bile duct and the portal vein were not dilated. The gallbladder showed normal wall thickening and was partially filled with sludge without stones (Figure 1). The child was kept on diet restriction and treated with maintenance intravenous fluid (IVF) and paracetamol. Hydroxyurea was stopped. Her gastrointestinal manifestations improved, and the liver enzymes subsided within days (Figure 2). After four days, the child was discharged home. Two days later, she was readmitted with poor oral intake and generalized upper limb pain (vaso-occlusive crisis). There was no clinical finding on examination. Her laboratory finding was acceptable, and she was started on IVF and analgesia. On 8/8/2020, she was discharged in very good clinical condition. Conclusions: It is clear that COVID-19 has significant impact on SCD. Poor oral intake that associated with viral infection can cause biliary sludge and Close follow-up is essential for those patients. Further studies are needed to support this finding. Disclosures No relevant conflicts of interest to declare.

Background The prevalence of sickle cell disease (SCD) within Saudi Arabia is relatively high, with an estimated 145/10,000 cases. There is an urgent need for researching many aspects of the Coronavirus disease of 2019 (COVID-19) due to the widespread of the virus among SCD patients in Saudi Arabia. The aim of this study is to determine how COVID-19 affects SCD patients in order to reach the best strategy for their management protocols. Methods This is a retrospective chart review study from a multi-center in Saudi Arabia that evaluated a total of 33 patients with sickle cell anemia/disease who were confirmed to have COVID-19. The diagnosis of COVID-19 was confirmed by using the reverse transcription-polymerase chain reaction (RT-PCR) tests based on the nasopharyngeal swabs of the included patients. Results The mean age of patients was 10.75+9.11 years, and nearly all patients (n= 32; 96.9%) were Saudi, and 48.4% of them were females. Twenty-two patients were admitted (59.5%); the main reasons for admission included vaso-occlusive crisis (VOC) only (n= 6; 27.3%), fever (n= 6; 27.3%), acute chest syndrome (n= 5; 22.7%), and VOC combined with other conditions (n= 4; 18.2%). During hospitalization, 54.1% of the patients received at least one medication, while antibiotics (54.1%), analgesia (32.4%), anticoagulants (16.2%), and steroids (16.2%) were the most commonly administered drugs. The mean length of hospitalization was 7.6±4.5 days, with only one patient (2.7%) requiring intensive care unit admission and assisted ventilation. Conclusion The overall prognosis was good since only one patient has passed away, while all others recovered and, subsequently, were discharged. Manifestations, laboratory investigations, and management modalities should be utilized promptly to enhance the prognosis and obtain better outcomes.

Rationale Around the globe, it is now understood that individuals with Rare genetic Diseases routinely face limitations to getting access to diagnosis. Plans have been created to improve the requirements of the patient's communities, including access to multidisciplinary care, and proposing new corrections or amendments to existing strategies. In the gulf region, numerous proposals have been established to tackle the diagnosis and management Rare genetic Diseases. Introduction and Background Rare genetic diseases are characterized as life-long, serious conditions that debilitate or compromise life. Almost 80% of Rare genetic diseases are diagnosed during the childhood. Absence of access to these assets affect patients and their families living with complex needs that may incorporate day in and day out observing, continuous serious physical and formative medicines, remaining in the training framework, and now and then costly strength meds1. The underlying etiology may stay obscure for many patients with rare genetic diseases despite multiple investigations. patients may be assigned an incorrect diagnosis and be referred to several specialties until a correct diagnosis can be made. A correct diagnosis of rare genetic diseases may impact not only the patient's care but may have further implications for management and/or counselling of family members as well2. Also, Early diagnosis leading to early treatment to prevent long-term damage. Global Landscape3 Rarity of diseases is most commonly defined based on prevalence and incidence within a jurisdiction, or in some cases by a combination of factors based on severity and the existence or feasibility of alternative therapeutic options. Globally, the following areas of focus aimed at improving the delivery of health care for the rare disease population: - Improve access to early diagnosis, timely intervention, coordinated care for rare genetic disease patients and developing referral pathways for rare genetic disease patients to facilitate efficient care deliver - Provide educational resources and knowledge exchange opportunities to health professionals to allow them to better identify, manage and treat rare disea - support integrated peer networks, patient organizations to ensure that rare disease patients, their family/caregivers and support them to make informed decisions about their condition. The importance of having working groups for Rare genetic Diseases in Gulf region 4 - Encourage improved coordination of care and access to particular information for rare genetic diseaseses. - Create a complete system services suppliers over Gulf states. Assets and Gaps analysis 1- Early Detection and Diagnostics 5 There are resources that assist the diagnostic capacity and early detection for rare genetic diseases. · Whole Exome sequencing are used mainly for research purposes, despite the fact that their use will reduced diagnostic odyssey. · Lack of the availability of testing is dependent on budget support in some hospitals. - Timely Access to Evidence-based care 6 - Family doctors may not be well equipped to meet the needs of patients with rare hematological genetic diseases, even after diagnosis. - Poor access supportive services for adult care. - Access to genetic counseling for patients and families outside major academic hospitals7. References 1. Sawyer, S. L. et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin. Genet.89, 275-284 (2016). 2. Undiagnosed Diseases Network Manual of Operations. (2018). 3. Richter, T. et al. Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. (2015). doi:10.1016/j.jval.2015.05.008 4. International Rare Disease Research Consortium& GUIDELINES Long version. (2013). 5. Clinical Handbook for Sickle Cell Disease Vaso-occlusive Crisis Provincial Council for Maternal and Child Health & Ministry of Health and Long-Term Care. (2017). 6. Therrell, B. L. et al. Current status of newborn screening worldwide: 2015. Seminars in Perinatology39, 171-187 (2015). 7. Stille, C. J. & Antonelli, R. C. Coordination of care for children with special health care needs. Current Opinion in Pediatrics16, 700-705 (2004). Figure Disclosures No relevant conflicts of interest to declare.