Prevalence of Thalassemia Trait & Iron Deficiency Anemia during Infancy in 2011-2013 in a Thalassemia Prevalent Region: North Cyprus.

BACKGROUND: Iron Deficiency Anemia (IDA) is an important health problem all around the world especially in developing countries. In the Mediterranean countries another prevelant reason of anemia is Thalassemia. Certain strategies had been established as a government policy to reduce prevalence in North Cyprus, such as pre-marital screening of Thalassemia. The prevalence of thalassemia trait has not been evaluated since then. The aim of this study was to detect the prevalence of IDA, thalassemia trait in infants under regular follow-up and to evaluate the compliance to prophylactic iron supplementation (PIS) and its effect on IDA. METHODS: Healthy children admitted to Department of Pediatrics, Near East University Hospital, in 2011-2013 were included. Data of anthropometric measurements, parental thalassemia trait status, duration of PIS usage, complete blood count, ferritin levels and hemoglobin electrophoresis were collected from hospital database program. Anemic children were grouped as IDA, thalassemia trait, both IDA and thalassemia trait and others. RESULTS: Eighty-nine infants with a mean age 13.52±2.09 mo were included. Compliance with PIS recommendation was 85.3% and, the mean duration of iron usage was 6.44±3.18 mo. IDA and thalassemia trait were found to be 11.2% and 4.5% respectively, while 3.4% of the infants had both IDA and thalassemia trait. CONCLUSION: Prevalence of thalassemia trait was 7.9% demonstrating approximately a 50% decline within 5 decades. This result confirms the success of premarital screening policy in North Cyprus. In addition, prevalence of IDA was relatively low being 14.6% supporting the beneficial effect of PIS on prevention of IDA.

A milestone in house dust-mite-allergen immunotherapy: the new sublingual tablet S-524101 (actair).

Subcutaneous allergen-specific immunotherapy has long been used in the treatment of allergic rhinitis and/or asthma and its efficacy has been confirmed. However, due to the discomfort of injections and the risk of severe adverse reactions, alternative routes of allergen administration have emerged. Delivery of allergens through the mucosal route had been proposed and investigated thoroughly, confirming the sublingual route to be the most efficacious. Later, the efficacy and safety of this route have been documented by numerous controlled trials both for house dust mite (HDM) and pollens. Recently, sublingual orodispersable grass pollen allergen tablets were in use followed by the newly developed HDM allergen tablets with satisfactory clinical results: Moreover, very recently 1 year of HDM tablet treatment was demonstrated to exert its clinical efficacy 1 year after discontinuation of tablet IT. The persistence of efficacy after only 1 year of treatment is a new and promising era. Currently, Sublingual Immunotherapy is the most easily administered and safe treatment option until more immunogenic, less allergenic and more efficient allergen extracts are developed.

Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency.

Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases.

Raised interleukin-13 levels in cord blood increases the risk of allergic sensitization at 5 years of age.

The identification of early markers of atopy in cord blood of newborns at delivery may offer prediction of future allergic sensitization. The aim of this study was to evaluate the relationship between cord blood interleukin-13 (IL-13) and interferon-gamma (IFN-γ) and development of allergic diseases during the first five years of life. Umbilical cord blood samples were collected at the time of delivery from 62 newborns. The families of these newborns were asked to complete a questionnaire about age and education of parents, number of siblings, allergic diseases in family members, cigarette exposure during pregnancy and presence of pets in their house. The same subjects were evaluated when they were five years old. Venous blood samples were drawn and epidermal skin prick tests were performed. IL-13 and interferon-gamma (IFN-γ) levels were studied from the blood samples which were taken during birth and five years later. There was no significant relationship between gender, type of delivery, educational levels of parents, exposure to cigarette smoke, atopy in parents, presence of pets in the house and IL-13 and IFN-γ levels in cord blood and at five years. Higher levels of IL-13 in newborns and five years olds, were found significantly related to skin prick test positivity (p=0.004 and p<0.0001, respectively) and presence of allergic diseases (p= 0.008 and p= 0.001, respectively). Levels of IFN-γ, both in cord blood and five years after, were not related with the future of allergic status of children. Higher levels of IL-13 in cord blood may be a predictor of future development of allergic sensitization.