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

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 managed at this tertiary Referral Center, who did not have definitive diagnoses by conventional methods, in September 2010. They all had presented symptoms from severe anemia since very early age, and where of difficult management through strategies like chronic transfusions, splenectomy or hydroxycarbamide, because lack of definitive diagnosis.

Samples were shipped after appropriate consentment to a highly specialized referral laboratory, (Hemoglobin Diagnostic Reverence Laboratory, Boston University School of Medicine), free from any charge, for its molecular characterization.

We obtained very accurate and complex results, also very interesting cases, like one unstable hemoglobinopathy from Heinz bodies (Hb Volga) and never before described thalassemic mutations, both homozygous and heterozygous. This was assuring, also reflected in a more appropriate and safer management of our patients.

We conclude it is always necessary to establish adequate diagnosis in our patients affected by hemoglobinopathies, for their adequate characterization and management. This will be reflected in a better quality of life.