Study of alpha1-antitrypsin phenotypes frequencies in patients with primary antibody deficiency

Primary antibody deficiencies are the most frequent primary immunodeficiency disorders. Bronchiectasis as a feature of these disorders may be developed due to some factors such alpha-1-antitrypsin deficiency. In order to determine the prevalence of two common alpha-1-antitrypsin deficiency alleles [PI*Z and PI*S] in Iranian patients with antibody deficiency, this study was performed. The prevalence of PI*M, PI*S, and PI*Z allele combinations was determined in 40 patients with primary antibody deficiency [with and without bronchiectasis] and compared with 60 healthy control subjects. Phenotyping was performed by isoelectric focusing. The phenotype frequencies among patients were as follow: M in 92.5%, S in 2.5% and Z in 5%. There was not any significant difference in distribution of alleles or phenotypes between patients and control subjects. Moreover, no significant difference was found between patients with and without bronchiectasis. We did not find evidence to support an association between alpha-1-antitrypsin phenotypes and primary antibody deficiencies in a small, controlled study. Larger studies will be required to clarify the relationship between alpha-1-antitrypsin genotype and susceptibility to bronchiectasis in patients with antibody deficiency

Health-related quality of life in primary immune deficient patients

The primary immunodeficiency [PI] disorders are abnormalities in development and maturation of the immune system. Individuals with PI disease may experience frequent infections, which limit their abilities to exhibit physical and psychological well-being secondary to their illness. In this survey we compared health-related quality of life of primary immune deficient patients with healthy children. The case-control study was designed for patients with PI disease who were referred to Children Medical Center in 2004-2005. Demographic information was taken and Pediatric Quality Of Life [PEDQOL] questionnaire were filled for 50 PI patients and 100 healthy children. The mean age in PI patients was 12.62 +/- 3.65 [range from 8 to 18] years and in the control group was 11.04 +/- 3.3 years. In PI patients 68% were male and 32% female .Most patients with PI disease had a diagnosis of common variable immunodeficiency [54%] or X-linked agammaglobulinemia [24%]. Patients with PI disease had great limitations in physical functioning and psychological well-being [p<0.001 and p<0.001 respectively] compared with children without a chronic health condition. Patients had lower PEDQOL scores in all age groups compared with normal sample [p<0.001]. Long duration of disease significantly correlated with low psychological score. [r=-3.23. P=0.03] Children with PI disease experience poorer health related quality of life than healthy children, indicating more attention should be paid to early diagnosis and treatment of PI disease, as well as more attention to their social limitation. PI patients may need psychological consultation for better coping with their illness

Recombinant erythropoietin and blood transfusion in very low birth weight infants

Very low birth weight infants [<1500 g] frequently require blood transfusions because of repeated blood sampling accompanied by anemia of prematurity. In an attempt to identify the effect of human recombinant erythropoietin to decrease the requirement for blood transfusions, erythropoietin was administered to 24 preterm infants less than 1500 g prospectively from September 1999 till December 2000.Data about the characteristics of the population, the severity of diseases, and treatment with erythropoietin, clinical diagnosis, initial and subsequent hemoglobin, volume of blood loss, and the number of blood transfusions were recorded. These results were compared with data from the recorded information of 49 infants who did not receive erythropoietin during those past 2 years. There were no differences between the 2 groups with regard to the gestational age, birth weight, clinical diagnosis, severity of the illness, primary causes of admission, and initial hematologic parameters such as hemoglobin, hematocrit and reticulocytes. Erythropoietin was administered in a dose of 200 IU/kg three times weekly for 6-8 weeks accompanied with iron supplement 6 mg/ kg/day. Transfusions were administered according to protocol.There was no significant difference between the number of blood transfusion among these 2 groups [p= 0.07]. However, transfusions in the erythropoietin treated group were fewer in comparison to the other group [1.9 +/- 1.6 to 3.2 +/- 1.1]. No difference was observed between final hemoglobin and hematocrit levels among the two groups [10.3 +/- 0.9 vs. 10.4 +/- 0.7 and 33.7 +/- 2.3 vs. 32.2 +/- 2.2].Very low birth weight infants receive frequent blood transfusions but a reduction in transfusion requirements was not apparent after administration of erythropoietin and iron in preterm infants in this study. However, the lack of impact on transfusion requirements fails to support routine use of erythropoietin