Quinn, CT. L-Glutamine for sickle cell anemia more questions than answers. Blood. 2018; 132(7):blood-2018-03-834440-blood-2018-03-834440.
In 2017, the Food and Drug Administration approved 2 medications for sickle cell anemia (SCA): hydroxyurea for children and l-glutamine for children and adults. The approval of hydroxyurea was long overdue, but the approval of l-glutamine was a surprise to many. Any effective new treatment for SCA is a welcome advance, but there are few published studies of l-glutamine as a specific treatment for SCA. Accordingly, there are many unanswered questions about its efficacy, safety, and role in current therapy.
Risinger, M; Christakopoulos, GE; Schultz, CL; McGann, PT; Zhang, W; Kalfa, TA. Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity. Pediatric Blood and Cancer. 2019; 66(2).
The broad phenotypic variability among individuals with sickle cell disease (SCD) suggests the presence of modifying factors. We identified two unrelated SCD patients with unusually severe clinical and laboratory phenotype that were found to carry the hereditary elliptocytosis-associated alpha-spectrin mutation c.460_462dupTTG (p.L155dup), a mutation enriched due to positive selective pressure of malaria, similar to the SCD globin mutations. A high index of suspicion for additional hematologic abnormalities may be indicated for challenging patients with SCD. These cases highlight the validity of specialized testing such as ektacytometry and next-generation sequencing for patients and family members to assess genotype/phenotype correlations.
McGann, PT; Williams, AM; Ellis, G; McElhinney, KE; Romano, L; Woodall, J; Howard, TA; Tegha, G; Krysiak, R; Lark, RM; Ander, EL; Mapango, C; Ataga, KI; Gopal, S; Key, NS; Ware, RE; Suchdev, PS. Prevalence of inherited blood disorders and associations with malaria and anemia in Malawian children.. Blood Advances. 2018; 2(21):3035-3044.
In sub-Saharan Africa, inherited causes of anemia are common, but data are limited regarding the geographical prevalence and coinheritance of these conditions and their overall contributions to childhood anemia. To address these questions in Malawi, we performed a secondary analysis of the 2015-2016 Malawi Micronutrient Survey, a nationally and regionally representative survey that estimated the prevalence of micronutrient deficiencies and evaluated both inherited and noninherited determinants of anemia. The data shows that inherited blood disorders are common and likely play an important role in the prevalence of anemia and malaria in Malawian children.
Ricci, KW; Hammill, AM; Mobberley-Schuman, P; Nelson, SC; Blatt, J; Bender, JL G; McCuaig, CC; Synakiewicz, A; Frieden, IJ; Adams, DM. Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease. Pediatric Blood and Cancer. 2019; 66(5).
This study investigated the efficacy and safety of the mTOR inhibitor, sirolimus, in the treatment of individuals with the complex lymphatic malformations, generalized lymphatic anomaly (GLA) and Gorham-Stout Disease (GSD), which are associated with significant morbidity secondary to numerous complications such as organ dysfunction, effusions, infection, pathologic fractures, disfigurement, and death. Treatment options have been limited, and conventional medical therapies have been generally ineffective at controlling disease progression. In the largest analysis of the use of sirolimus in patients with GLA and GSD to date, we demonstrated that sirolimus is a safe and well-tolerated oral treatment that stabilizes or reduces signs and symptoms of disease and improves quality of life in these affected individuals. Additionally, sirolimus therapy improved disease risk factors associated with poorer prognosis. Furthermore, no patients experienced clinical or radiologic progression of their disease while on sirolimus, which is significant given the unpredictable and progressive nature of these conditions.
Boucher, AA; Taylor, JM; Luchtnnan-Jones, L. Aspirin in childhood acute ischemic stroke The evidence for treatment and efficacy testing. Pediatric Blood and Cancer. 2019; 66(6).
Aspirin is the most commonly prescribed antiplatelet agent worldwide, but evidence supporting its use varies by age and disease process. Despite its frequent use in childhood acute ischemic stroke prevention and management, major knowledge gaps exist about optimal pediatric aspirin use, particularly in this setting, where high-quality clinical trials are urgently needed. This review focuses upon the evidence for aspirin use in childhood acute ischemic stroke, includes a summary of aspirin pharmacology to highlight misconceptions and common clinical situations which may limit its efficacy, and discusses the techniques and potential role of laboratory monitoring of aspirin efficacy in children.