Sickle Cell Disease. Martin H. Steinberg. Department of Medicine, Boston University School of Medicine, Boston, MA. (07/18/13). Sickle Cell Disease: General Points. Globin Gene Mutations are Autosomal Co-dominant (Recessive) Traits.
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Martin H. Steinberg
Department of Medicine, Boston University School of Medicine, Boston, MA
Globin Gene Mutations are Autosomal Co-dominant (Recessive) Traits
family study, clinical symptoms, exam, blood morphology
separation of hemoglobin proteins by HPLC
DNA-based Dx by PCR and sequencing
Many Genotypes Comprise the Phenotype of Sickle Cell Disease
Complexity suggests sites for intervention
Result of membrane damage
Hemoglobin may be in solution
Do NOT signify acute sickle cell-related events
Little affected by HbF concentration; less prevalent with co-incident α thalassemia; sometimes a mortality risk
HbF affects the incidence of many of these complications
46 y.o. man,HbSC disease, chest and leg pain, weakness, SOB. Acute severe anemia, leukocytosis, hypoxia, obtundation, liver and renal failure, death.
Acute painful episode-most frequent
Acute chest syndrome-often presents as acute pain
opioid induced, secondary to acute pain
(Ballas and Smith, Blood, 1992)
After 17.5 years, ↓deaths; 87% of deaths occurred in patients who never took hydroxyurea or took it for <5 years. Long-term use of hydroxyurea in adults is safe.
(Steinberg et al, 2003, Steinberg et al, 2010, Voskaridou et all, 2009)
Myeloablative transplantation in children: ~85% disease free survival (Lucarelli, 2012)
Nonmyeloablative HLA matched transplants in 10 adults: stable mixed chimerism and "cure" in 9 of 10 cases (Hsieh, 2009)
Related haploidentical transplants in adults and children (Bolanos-Meade, 2012; Dallas, 2013)