Concurrent Sickle Cell Anemia and Diabetes Mellitus with Ketosis in a Libyan Toddler: First National Report and Youngest Case Study

Sickle cell Anemia (SCA) is a common inherited haemoglobinopathy resulting from a single-point mutation on the β-globin subunit of hemoglobin. It is a chronic condition with multi-system involvement. Growth delay, osteopenia and hypogonadism are common endocrine dysfunctions with a lower frequency of impaired glucose tolerance. However, there is an association between SCA and diabetes mellitus (DM), though it is very rare. Certainly, there are only a few published reports worldwide outlined this uncommon combination. In this report, we will present the first Libyan case study of co-existence of the two diseases in a-16-month-old male toddler recording the youngest patient diagnosed with such a rare combination. The child, who was diagnosed earlier with SCA, brought with concerns of frequent changing nappies (polyuria) and excessive thirst (polydipsia) for 2 weeks that worsened recently. On admission, the toddler was distressed, lethargic and his lab parameters showed hyperglycemia, ketonuria, glycosuria and acidosis, a diagnosis of diabetic ketoacidosis (DKA) on the background of SCA therefore was made. Further observations are warranted to properly guide about the diagnosis and management of such rare cases.

Download Full-text

Sickling Cells, Cyclic Nucleotides, and Protein Kinases: The Pathophysiology of Urogenital Disorders in Sickle Cell Anemia

Anemia ◽

10.1155/2012/723520 ◽

2012 ◽

Vol 2012 ◽

pp. 1-13 ◽

Cited By ~ 4

Author(s):

Mário Angelo Claudino ◽

Kleber Yotsumoto Fertrin

Keyword(s):

Protein Kinases ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Cyclic Nucleotides ◽

Single Point ◽

Clinical Manifestations ◽

Single Point Mutation ◽

Tract Infections

Sickle cell anemia is one of the best studied inherited diseases, and despite being caused by a single point mutation in theHBBgene, multiple pleiotropic effects of the abnormal hemoglobin S production range from vaso-occlusive crisis, stroke, and pulmonary hypertension to osteonecrosis and leg ulcers. Urogenital function is not spared, and although priapism is most frequently remembered, other related clinical manifestations have been described, such as nocturia, enuresis, increased frequence of lower urinary tract infections, urinary incontinence, hypogonadism, and testicular infarction. Studies on sickle cell vaso-occlusion and priapism using bothin vitroandin vivomodels have shed light on the pathogenesis of some of these events. The authors review what is known about the deleterious effects of sickling on the genitourinary tract and how the role of cyclic nucleotides signaling and protein kinases may help understand the pathophysiology underlying these manifestations and develop novel therapies in the setting of urogenital disorders in sickle cell disease.

Download Full-text

A Mathematical Graph-Theoretic Model of Single Point Mutations Associated with Sickle Cell Anemia Disease

JOURNAL OF ADVANCES IN BIOTECHNOLOGY ◽

10.24297/jbt.v9i.9109 ◽

2021 ◽

Vol 9 ◽

pp. 1-14

Author(s):

Edem K. Netsey ◽

Dr. samuel Kakraba ◽

Samuel M. Naandam ◽

Aayire C. Yadem

Keyword(s):

Sickle Cell ◽

Sickle Cell Anemia ◽

Single Point ◽

Point Mutations ◽

Sub Saharan Africa ◽

Single Point Mutation ◽

Theoretic Model ◽

Related Disorder ◽

Graph Theoretic ◽

Single Point Mutations

Many diseases like cystic fibrosis and sickle cell anemia disease (SCD), among others, arise from single point mutations in the respective proteins. How a single point mutation might lead to a global devastating consequence on a protein remains an intellectual mystery. SCD is a genetic blood-related disorder resulting from mutations in the beta chain of the human hemoglobin protein (simply, β-globin), subsequently affecting the entire human body. Higher mortality and morbidity rates have been reported for patients with SCD, especially in sub-Saharan Africa. Clinical management of SCD often requires specialized interdisciplinary clinicians. SCD presents a major global burden, hence an improved understanding of how single point mutations in β-globin results in different phenotypes of SCD might offer insight into protein engineering, with potential therapeutic intervention in view. By use of mathematical modeling, we built a hierarchical (nested) graph-theoretic model for the β-globin. Subsequently, we quantified the network of interacting amino acid residues, representing them as molecular system of three distinct stages (levels) of interactions. Using our nested graph model, we studied the effect of virtual single point mutations in β-globin that results in varying phenotypes of SCD, visualized by unsupervised machine learning algorithm, the dendrogram.

Download Full-text

Sickle Cell Anemia: A review on the most severe form of Sickle Cell Disease

Bionatura ◽

10.21931/rb/cs/2019.02.01.19 ◽

2019 ◽

Vol 02 (Bionatura Conference Serie) ◽

Author(s):

María Belén Paredes ◽

María Eugenia Sulen

Keyword(s):

Sickle Cell Disease ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Globin Gene ◽

Single Point ◽

Clinical Manifestations ◽

Severe Form ◽

Single Point Mutation ◽

Cell Disease ◽

Hemoglobin S

Sickle cell disease (SCD) is a group of hereditary disorders caused by a single point mutation in the β-globin gene. This mutation results in the formation of a mutated hemoglobin S (HbS) and the consequent sickle phenotype of erythrocytes. SCD is common in regions of malaria endemicity. However, changes in population dynamics enabled the movement of the mutated gene to other areas such as North America and Europe. Sickle cell anemia (SCA) is the most severe form of SCD and affects millions of people around the globe. The clinical manifestations of SCA arise primarily from the polymerization of deoxygenated hemoglobin S (deoxyHbS) leading to vascular occlusion and hemolytic anemia. Clinical complications of the disease are derived from deoxyHbS polymerization, but there are several therapeutic strategies to reduce the severity of the symptoms. Gene therapy has arisen as a new therapeutic approach aimed to cure rather than to treat the symptomatology of SCA by targeting the altered β-globin gene for gene correction.

Download Full-text