This Week in Sickle Cell News

Another week and more exciting finds!

Publications

• First recorded case of haemoglobin SC in Sudan

          Excerpt:

Hb S is known to be prevalent in Sudan and was suggested to be more common in populations from Western tribes. On the other hand, Hb C is not as well documented as HbS in Sudan, but was recently reported in 2008  Interestingly, the current study showed two schoolgirls with HbSC, as their parents are carriers of HbAS and HbAC.

• α-Thalassemia Does Not Seem to Influence Erythrocyte Deformability in Sickle Cell Trait Carriers 

          Excerpt

 When compared with controls, sickle cell trait carriers showed no differences for any of the biochemical parameters analyzed (p > 0.05), but significantly lower hemoglobin (Hb) (p = 0.003), mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) (p < 0.001) levels, although no differences in erythrocyte deformability were observed at any of the shear stresses tested (p > 0.05). When comparing sickle cell trait carriers, with and without α-thal, no differences in erythrocyte deformability were observed (p > 0.05), in spite of the former showing lower MCV and MCH (p < 0.05) levels.

• Screening and Molecular Characterization of β-Thalassaemia Mutations in Parents and Siblings of β-Thalassaemia Major Patients.

          Excerpt

 The β-thalassaemic population (3–17%) in India has been used to reflect on blood safety. The prevalence of HIV-1/2, HCV and HBV in the Indian donor population, the limitations in accessing safe donors, quality of serological tests and the impact on repeat recipients is evaluated. The reports point to prevalence of ˜2% of viral diseases in the blood donor population, and the insufficiency of serology testing resulting in up to 45% TTIs in thalassaemics.

• Modulation of gamma globin genes expression by histone deacetylase Inhibitors: an in vitro study

         Excerpt

Increased levels of HbF can ameliorate the severity of the β-haemoglobin disorders, such as SCD and β-thalassaemia, which are major sources of morbidity and mortality worldwide. As a result, there has been a longstanding interest in developing therapeutic approaches for inducing HbF. Different classes of pharmacological agents (hypomethylating agents: 5-Azacytidine; HDAC inhibitors: butyrate and its derivatives; HC) have been tested both in vitro and in vivo (Atweh & Loukopoulos, 2001; Testa, 2009). Although the clinical outcome of SCD patients has improved considerably since the approval of HC for the treatment of SCD in 1998 (Platt, 2008), the impact of these new therapies on the natural history of β-thalassaemia was of only limited efficacy.