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Background: Epidermolysis bullosa simplex (EBS) belongs to a group of inherited, mechanobullous disorders; one subtype is EBS Dowling—Meara (EBS-DM), which is the focus of this article. EBS-DM is characterized by painful skin blistering from minor friction, which evolves into chronic wounds. Objective: We describe the holistic nursing care of a child with EBS-DM in a tertiary outpatient dermatology clinic in Singapore. Methods: This case study highlights the clinical history, signs and symptoms, pathophysiology, nursing management, and patient education of a child with EBS-DM. Conclusion: The management of EBS-DM poses challenges in the absence of a definite cure. Patients with EBS-DM need individualized care, according to the severity of their disease. A multidisciplinary team approach of providing holistic care helps to maximize the health, outcome, and quality of life for these patients. [ABSTRACT FROM AUTHOR]

Background: The interaction of the non-deletional α+-thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population. Methods: DNA from two families with Haemoglobin H disease was extracted from EDTA-anticoagulated whole blood and subjected to molecular analysis for a-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian a-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine- amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction. Results and Conclusions: The combine- amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA. [ABSTRACT FROM AUTHOR]

Molecular characterization of the compound heterozygous condition--[supG]γ([supA]γδΒ)[supo]/Β-thalassemia--in four families showing mild Β-thalassemia intermedia was carried out using DNA amplification techniques. Using the Amplification Refractory Mutation System (ARMS) to confirm the Β-mutations and DNA amplification to detect the 100-kb Chinese-specific [supG]γ([supA]γδΒ)[supo]-deletion, two families were confirmed to possess [supG]γ([supA]γδΒ)[supo]/&Beta-thalassemia with the IVSII No. 654 Β[sup+]-allele. In the third family, the [supG]γ([supA]γδΒ)[supo]-deletion was confirmed in the father and the mother was a Β-thalassemia carrier with the cd 41-42 Β[supo]-allele. Their affected child with [supG]γ([supA]γδΒ)[supo]/Β-thalassemia was found to be transfusion dependent. The same [supG]γ([supA]γδΒ)[supo]-deletion and Β-thalassemia (cd 41-42) was also confirmed in a fourth family. In addition, the mother was also diagnosed with Hb H disease (genotype-α[sup3.7]/[sup-SEA]). Both the children were found to possess [supG]γ([supA]γδΒ)[supo]/Β-thalassemia but they were not transfusion dependent and this could be due to co-inheritance of α-thalassemia-2 (genotype-α[sup3.7]/αα) in the children together with their compound heterozygous condition. [ABSTRACT FROM AUTHOR]