No abstract available.
Anemia, Sickle Cell* ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Hemoglobin, Sickle* ; Humans

Hemoglobin Bart's hydrops fetalis, characterized by a deletion of all four a-globin genes is the most severe and lethal form of Thalassemia disease. Mortality rate usually ranges from 60-100% of cases. Given the poor overall prognosis, most countries resort to pregnancy termination or expectant management as the only options to offer affected pregnancies.
This paper presents a case of the successful management of a primigravid, diagnosed with hydrops fetalis at 29 4/7 weeks age of gestation. She delivered successfully to a live, preterm, baby boy who was later found out to have hydrops fetalis due to Hemoglobin Bart's disease, and currently, continues to thrive past eight months of age.
This report aims to improve the clinicians' knowledge regarding the work up and management of pregnant patients diagnosed with hydrops fetalis, and increase the clinician's awareness on the epidemiology, importance of targeted screening, and diagnosis of Alpha-Thalassemia in Filipino patients.

Aged ; Anemia, Sickle Cell ; complications ; pathology ; Arthritis, Rheumatoid ; complications ; Female ; Hemoglobin E ; Hemoglobin, Sickle ; Humans

Salmonella osteomyelitis is uncommon and it often develops in patients with sickle cell anemia and other hemoglobinopathy. Especially, osteomyelitis caused Salmonella typhi in a nonsickle cell patients is a very rare event. We report three cases with review of literature.
Anemia, Sickle Cell ; Hemoglobinopathies ; Humans ; Osteomyelitis ; Salmonella typhi ; Salmonella

Sickle cell disease (SCD) is an inherited red cell disorder, characterized by the tendency of haemoglobin S or sickle haemoglobin to polymerize and assume a characteristic sickle shape. Molecular analysis has been the mainstay of detection method when confirmation is required. Previously a polymerase chain reaction (PCR)-based restriction enzyme analysis was used for this purpose. A simple bidirectional allele-specific amplification, recently described by Waterfall in 2001 was used to detect the GAG --> GTG mutation on codon 6 of the beta globin gene. Two sets of primers for the mutant and the wild type alleles were used in a single PCR reaction to amplify the regions of interest. The resultant PCR products will produce two fragments at 517 and 267 base pair (bp) respectively. This report highlights the investigations for SCD in the family of a 16-year old girl with recurrent painful crisis affecting the lower limbs whereby the family members are asymptomatic for the disease. Her haemoglobin electrophoresis at an alkaline pH showed dense bands at the HbS and HbF regions, while her father and two sisters had bands at HbS, HbF and HbA. The PCR analysis showed that she was homozygous for the mutation by the presence of only one band at 267 bp fragment, while the father and her sisters were heterozygotes, with the presence of two bands at 267 as well as 517 bp fragments. DNA sequencing of the sample confirmed the mutation. In conclusion, this case report highlighted the simple and cheap yet practical method for molecular confirmation of the presence of HbS gene in subjects with homozygous or heterozygous state of the condition.
Anemia, Sickle Cell/*diagnosis ; Anemia, Sickle Cell/*genetics ; Base Sequence ; Fathers ; Hemoglobin, Sickle/*genetics ; Heterozygote ; Homozygote ; Malaysia ; Mutation ; Nucleic Acid Amplification Techniques ; Pedigree ; Polymerase Chain Reaction ; Siblings

Translocation renal cell carcinoma (RCC) is a family of rare tumors recently identified in the pediatric and young adult population. We report the first case of a young woman from French West Indies with sickle cell anemia who developed a translocation RCC t(6;11)(p21;q12). Usually people with the sickle cell condition are known to develop renal medullary carcinoma (RMC). To our knowledge, this is the first case described in the literature of a translocation RCC associated with sickle cell disease. Here we discuss the relation between translocation RCC, RMC, and sickle cell disease.
Anemia, Sickle Cell* ; Carcinoma, Medullary ; Carcinoma, Renal Cell* ; Female ; Hemoglobin, Sickle ; Humans ; Kidney Neoplasms ; West Indies ; Young Adult

Patients with sickle cell anemia are chronically transfused. Therefore, it is important to prevent the alloimmunization of RBC antigens. The authors identified a high frequency antigen-negative blood group in patients with sickle cell anemia. As the number of foreigners residing in Korea is increasing, it is necessary to know what to consider when transfusing blood to sickle cell anemia patients. Patients with sickle cell anemia should be informed of the exact blood group type using extended RBC typing to confirm the ABO, Rh, Kell, and Duffy blood types at diagnosis or before the first blood transfusion. Extended matched blood transfusion can reduce the risk of alloimmunization of RBC antigens.
Anemia ; Anemia, Sickle Cell* ; Blood Transfusion ; Diagnosis ; Duffy Blood-Group System ; Emigrants and Immigrants ; Erythrocytes* ; Humans ; Korea

Priapism is defined as a persistent and painful erection lasting longer than four hours without sexual stimulation. Based on episode history and pathophysiology, priapism is classified into three subtypes: ischemic (low-flow), non-ischemic (high-flow), and stuttering priapism. Ischemic priapism is characterized by a persistent, painful erection with remarkable rigidity of the corpora cavernosa caused by a disorder of venous blood outflow from this tissue mass, and is similar to penile compartment syndrome. Stuttering priapism is characterized by a self-limited, recurrent, and intermittent erection, frequently occurring in patients with sickle cell disease. Non-ischemic priapism is characterized by a painless, persistent nonsexual erection that is not fully rigid and is caused by excess arterial blood flow into the corpora cavernosa. Because ischemic and non-ischemic priapism differ based on emergency status and treatment options, appropriate discrimination of each type of priapism is required to initiate adequate clinical management. The goal of management of priapism is to achieve detumescence of the persistent penile erection and to preserve erectile function after resolution of the priapism. To achieve successful management, urologists should address this emergency clinical condition. In the present article, we review the diagnosis and clinical management of the three types of priapism.
Anemia, Sickle Cell ; Compartment Syndromes ; Diagnosis ; Discrimination (Psychology) ; Emergencies ; Humans ; Male ; Penile Erection ; Priapism* ; Stuttering

Priapism is a relatively rare condition consisted of persistent painful erection, unrelated to sexual activity. The management is often delayed or ineffective, resulting in the development erectile bodies into impotence. The most common form in adult is idiopathic but in the childfood sickle cell disease is more common. Initial therapy consist of Analgesic, Antibiotic, Sedatives, Ice water enema, and Anticoagulant irrigation of corpus cavernosum. We used Hemo-Vac drainage which was continuous drainage from corpus cavernosum and obtained a good results.
Adult ; Anemia, Sickle Cell ; Drainage ; Enema ; Erectile Dysfunction ; Humans ; Hypnotics and Sedatives ; Ice ; Male ; Priapism* ; Sexual Behavior

Priapism is a prolonged erection of the corpus cavernosum that is unaccompanied by sexual desire. It has been classified into 2 main groups: primary (idiopathic) or secondary. The common conditions associated with a secondary priapism include sickle cell anemia, trauma, leukemia, a cancerous invasion of the penis, drugs, alcohol ingestion, various venous thromboembolic diseases, intravenous fat for parenteral nutrition, and other less common disorders.1 A splenectomy has not been previously identified as a predisposing factor except for a report of 3 cases of priapism who underwent a splenectomy.2 We experienced a case of recurrent priapism following a splenectomy that developed in 30 years old man.
Adult ; Anemia, Sickle Cell ; Causality ; Eating ; Humans ; Leukemia ; Male ; Parenteral Nutrition ; Penis ; Priapism* ; Splenectomy*