ABSTRACT
Although not regularly transfused, patients with non-transfusion-dependent thalassemia (NTDT) are prone to iron overload and its complications. Their molecular, phenotypical and laboratory characteristics vary in different populations and there is a need to document local prevailing patterns. We have reviewed the records of our patients with NTDT in Kuwait and documented their clinical and molecular characteristics in addition to iron status [serum ferritin and liver magnetic resonance imaging (MRI) T2*], management and complications. There were 41 patients, made up of 20 with ß-thalassemia intermedia (ß-TI), 18 with Hb H (ß4) disease and three with Hb E (HBB: c.79G > A)-ß-thalassemia (Hb E-ß-thal); their ages ranged from 3 to 36 years (mean 12.5 ± 7.7). While 18 (43.9%) had been transfused at least once, only three (7.3%) had been transfused on multiple occasions. Three patients had serum ferritin >500 ng/mL; while four of 38 had mild or moderate liver iron overload. Seven (35.0%) of the ß-TI patients were managed with hydroxyurea (HU) with good response. Other complications included five patients with gallstones and one each of hypothyroidism and moyamoya. The most common mutations among the ß-TI patients were IVS-II-1 (G > A) and IVS-I-6 (T > C), while among the Hb H patients, the Saudi α2-globin gene polyadenylation (polyA) (AATAAA > AATAAG) mutation was responsible for all cases either as homozygotes (61.1%) or compound heterozygotes with the α-thal-2 (-α(3.7)) allele (33.3%). Although the pattern of NTDT in Kuwaiti patients is generally mild, there is a need to follow them to adulthood as the complications are cumulative and more prevalent in this group.
Subject(s)
Thalassemia/blood , Thalassemia/genetics , Adolescent , Adult , Child , Child, Preschool , Erythrocyte Indices , Female , Fetal Hemoglobin/genetics , Fetal Hemoglobin/metabolism , Hemoglobin E/genetics , Hemoglobin E/metabolism , Hemoglobin H/genetics , Hemoglobin H/metabolism , Humans , Kuwait , Male , Mutation , Thalassemia/diagnosis , Young Adult , alpha-Globins/genetics , alpha-Globins/metabolism , beta-Globins/genetics , beta-Globins/metabolismABSTRACT
BACKGROUND: Healthy children presenting with neutropenia are often hospitalized and treated empirically with antibiotics without an evidence of infection. The objective of this study was to investigate the infectious causes of isolated transient neutropenia in otherwise previously healthy children. METHOD: A 2-year prospective study was conducted at a tertiary hospital in Kuwait. All previously healthy children (aged 1 month to 12 years) hospitalized with isolated neutropenia defined as absolute neutrophil count (ANC) ≤ 1.5 × 10/L were enrolled in the study. Investigations to identify the infectious causes included blood and urine culture for bacteria whereas for viruses, serology for Epstein-Barr virus, cytomegalovirus, adenovirus, parvovirus and polymerase chain reaction for human herpes virus 6 and enterovirus were performed. RESULTS: Fifty-five children were enrolled during the study. Children less than 2 years of age constituted 73% of the sample. There were 2 peaks of presentation: March-May (33%) and September-November (38%). Associated features were congested throat (56%), runny nose (53%) and cervical lymphadenopathy (20%). The median ANC on admission was 0.6 × 10/L. Associated infections were documented in 55% of enrolled children and were as follows: human herpesvirus 6, 30%; enterovirus, 23%; influenza A H1N1, 13%; parvovirus, 10%; Epstein-Barr virus, 10%; urinary tract infection, (Eshcherichia coli) 7%; and adenovirus, 7%. No serious bacterial infection was identified, and the mean time for recovery of the ANC was 16.7 ± 15 days. CONCLUSIONS: Neutropenia in previously healthy children in Kuwait is caused by demonstrable infections in 55% of cases. Majority of children will recover their ANC completely within 1 month without significant infectious complications.
