Hemoglobinopathies Of Difficult Diagnosis. Case Reports From a Main Referral Pediatric Hospital In Venezuela

TL;DRAbstract

Hemoglobinopathies, sickle cell disease and thalassemias, are the most common genetic disorders worldwide, affecting millions of individuals. Diagnosis can take place very early in life, ideally through newborn screening, sometimes later in life. Disease modifying, acute and long term management strategies are provided for specific genotypes, and can be challenging for the treating hematologists. It is essential the adequate diagnosis for the optimal management of these patients. Most diagnosis are made through hemoglobin electrophoresis, high performance liquid chromatography (HPLC) in the majority of cases of thalassemias. However, in some cases the correct diagnosis cannot be made by these methods, and more complex studies are needed, at the molecular level to genetically characterize the disorder. We report a series of 12 patients from the pediatric hematology department from Hospital de Ninhos JM de los Rios, affected by severe congenital hemolytic anemias, who where assessed and

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