Title : Phlebotomy therapy in Sickle cell disease of double heterozygosity HbSC and rare congenital erythrocytosis in hemoglobin variants
Patients affected from high affinity for oxygen hemoglobinopathies with congenital erythrocytosis require phlebotomy therapy. These patients have complex diagnostic classification of polyglobulia that is often delayed by a series of haematological, cardiological, nephrological, pneumological tests to exclude more frequent etiopathogenetic causes. Haemoglobinopathies test is diagnostic in the study of forms of erythrocytosis apparently of a etiology to be defined and quickly initiate the patient to phlebotomy therapy program. Cases Report First clinical case: 68-year-old male patient in salassotherapy for polyglobulia since 2004 with an average of 3-4 phlebotomy / year of 450 mL. Maternal familiarity due to erythrocyte plethora, investigation of the hemoglobin structure is required by HPLC (β Thal. Short, Variant II Bio-Rad). At the chromatogram in retention time 1.53, in correspondence with P3, there was a hemoglobin variant expressed with a peak of 39.7%, HbA 48.8%, HbA2 2.6%, HbF <0.8%. The study in molecular biology has shown a mutation referable to a Hb Regina [ß 96 Leu> Val] in heterozygosis. Second clinical case: two blood donor brothers aged 57 and 58, respectively the first in salassotherapy since 2004 with an average of 8-9 phlebotomy / year of 400 mL every two months and the second since 2006 with an average of 3- 4 / year of 450 mL at quarterly interval. Negative investigations for primary or secondary polyglobulia. By HPLC found a hemoglobin variant which, upon identification of the genetic test, responded to Hb Trollhattan [ß 20 Val> Glu] in heterozygous. Third clinical case: In 2013 a 29 years old young man born in Ghana affected by a Sickle cell disease in double heterozygosity HbSC. The chromatogram showed two hemoglobin variants HbS 46%, HbC 43.7%, HbA2 4%, HbF 0.9% and HbA 3%. He was admitted to the hospital six times in a year with pain vaso-occlusive crisis, due to constant hyperviscosity, but in the absence of pathologies and anemia Hb 14.5-16.0 g / dL. Unacceptable response to hydrossyurea. The patient started a treatment of phlebotomies of about 400 ml every three monthes to reduce blood viscosity achieving and maintaining haemoglobin value of 10-12 gr / dl. No longer required admission Hospital for pain due to vaso-occlusive crisis. Conclusions Hb Regina and Hb Trollhattan were first described in a Scandinavian and Swedish family respectively. They are identified among the variants Hb that cause compensatory erythrocytosis of genetic origin, related to release of oxygen by hemoglobin. Not much is reported in the literature regarding prognosis and therapy. The rare cases that came to our observation represent the first report in our population, a hemoglobinopathies test is justified in the diagnostic classification of polyglobulies. Anti-aggregation therapy prevention is required for hyperviscosity in association with phlebotomy, it is more important to prevent the increased thrombotic risk. In patients affected of Sickle cell disease in double heterozygosity HbSC is more important to prevent the pain vaso-occlusive crisis to hyperviscosity, with a regular therapeutic protocol of flebotomy, also because these patients respond less to hydrossyurea therapy that sickle cell disease in homozygosis HbSS.
What will audience learn from your presentation?
It will be able to use the hemoglobinopathies test, not only for Thalassemia and Sickle cell disease study, but to complete erythrocytosis diagnostic investigations.
In polyglobulia with investigations not found of secondary forms etiopathology for cardiological, nephrological, pneumological tests, it’s important to complete the study with haemoglobin tests.
In polyglobulia with investigations not found of primary etiopathology for haematological disease, like Polycythemia Vera Jak2 negative, it’s important to complete the study with hemoglobinopathies tests for rare haemoglobin variants to high affinity for oxygen, in particular in the familiar erythrocytosis.