Blood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. alpha-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -alpha3.7 gene deletion was the most common alpha-globin gene abnormality. The - -SEA deletion and nondeletional forms of alpha-thal, Hb Constant Spring [Hb CS, alpha142, Term-->Gln, TAA-->CAA (alpha2)], Hb Paksé [alpha142, Term-->Tyr, TAA-->TAT (alpha2)] and triplicated alpha genes, were also present but at low frequencies. Hb E [beta26(B8)Glu-->Lys, GAG-->AAG] (28.8%) was the most common beta-globin gene abnormality, whilst beta-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -alpha3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia.
Chromobacterium violaceum infection is rarely described in Southeast Asian children, which may be due partly to the lack of access to adequate microbiology facilities in many areas. This case report describes the first documented case to occur in a Cambodian child. An awareness of the disease and its manifestations is important as treatment can be difficult and may require prolonged courses of antimicrobials and surgery.
Cases occurring in infants raise the question of a germline mutation (such as in the p53 gene) 5 or an underlying syndrome (Costello, Beckwith-Wiedmann, neurofibromatosis). Failure to define a primary site occurs in only 1% to 2% of cases. 6 Although the lung is the most common site for metastases, the tumor may spread to almost any area.
PYRITES CASEA 2-month-old girl presented with a right upper lip mass which had been enlarging since birth (Fig. 1). She did not have fever, bruising, abdominal distention, or bleeding. She was active and growing normally.Physical examination showed normal vital signs. There was a slightly red firm right upper lip mass (Fig. 2). The liver was 2 cm, and spleen 3 cm below the costal margins. Hemangioma was suspected. No labs were obtained before a tissue biopsy was performed.
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