Screening for anemia in children: AAP recommendations--a critique.

The American Academy of Pediatrics (AAP) recommends screening for anemia between the ages of 9 to 12 months with additional screening between the ages of 1 and 5 years for patients at risk. The screening may be universal or selective depending on the prevalence of iron deficiency anemia in the population. Improved infant rearing practices-including wider availability, acceptance, and use of iron-fortified formulas; iron fortification of foods; and increased awareness of the importance of dietary iron supplementation especially early in life-have lead to significant decline in the incidence of anemia in the first year of life. However, incidence of iron deficiency and ensuing anemia in children between 1 and 2 years continues to be significant and an important issue. Although iron deficiency may develop soon after cessation of or inadequate iron intake, anemia secondary to iron deficiency develops gradually over a period of several weeks to months. For children who have received/are receiving iron-fortified infant formulas and foods, hemoglobin screening at 9 to 12 months of age is inappropriate as there may not have been sufficient time to develop anemia, despite the rapid growth rate at this age. Widespread implementation of hemoglobin electrophoresis included in the neonatal metabolic screening programs in many states in the United States now has resulted in earlier diagnosis of hemoglobinopathies. Screening children at 9 to 12 months of age for hemoglobinopathies is somewhat redundant now. Screening for anemia before or around 1 year of age should continue to be important for communities and children at risk. Universal screening of toddlers at a later time allows sufficient time for nutritional anemia to become evident after the child has been weaned off iron-fortified formulas, for the influence of toddler dietary fads to manifest, and for evaluation of tolerance of cow's milk protein. This may be addressed via 2 approaches. The first involves postponing the currently recommended screening or an additional screening for anemia between 15 to 18 months of age. Determination of hemoglobin (or hematocrit) is not the optimal way to identify children at risk from effects of iron deficiency as it fails to identify patients who are iron-deficient but are not anemic. Long-term psychomotor, behavioral, and developmental effects secondary to iron deficiency anemia are known but sufficient data are lacking regarding the role of iron deficiency without anemia. Development and evaluation of sensitive, specific, and cost-effective screening tools to identify children at risk for iron deficiency is important. Until such methods are instituted, the AAP should emphasize and recommend universal screening for anemia during the second year of life.

Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn with cyanosis.

A term infant presented with mild cyanosis without evidence of hypoxia. Cardiopulmonary disease, polycythemia, and methemoglobinemia were excluded. Standard hemoglobin electrophoresis, including isoelectric focusing, were normal. However, by reverse-phase C4 HPLC, an abnormal globin chain was detected. Analysis of tryptic peptides and amino acid sequence showed that the patient had an amino acid substitution Phe-->Ser at residue 41(C7) in the G gamma chain. This was confirmed by DNA sequencing that demonstrated a point mutation at the expected site in exon 2 of the G gamma gene, accounting for the appropriate change in the codon. This substitution, hemoglobin F-Cincinnati, alpha 2 gamma 2 41(C7) Phe-->Ser, not previously described, presumably decreased oxygen affinity of the hemoglobin. This substitution is very near the heme group and the alpha 1 beta 2 interface and, hence, in a crucial area of the globin chain. Abnormalities of gamma globin chains tend to be overlooked due to their transient presence and trivial clinical symptomatology, or due to "in utero" selection when physiologically abnormal. Mutant hemoglobins with altered oxygen affinity should be included in the differential diagnosis of newborns presenting with cyanosis, in whom all common causes have been excluded.

Sphenoid sinus involvement in neuroblastoma.

PURPOSE: Malignancy of the sphenoid sinus, especially metastatic involvement, is an extremely rare event at any age and is usually associated with a poor prognosis. We present a case of a 5-year-old boy who underwent allogenic bone marrow transplantation for stage IV neuroblastoma. PATIENTS AND METHODS: Three years later, he presented with an isolated lesion, histologically proven to be neuroblastoma, in the sphenoid sinus. RESULTS: Partial excision of the tumor, followed by chemotherapy and radiotherapy, achieved a remission for 3 years.

Bone marrow transplantation in Fanconi anemia using matched sibling donors.

Eighteen patients with Fanconi anemia (FA) with evidence of bone marrow (BM) aplasia underwent allogenic BM transplants (BMT) from matched sibling donors (MSD). Median age at BMT was 7.6 years. Conditioning consisted of low-dose cyclophosphamide (CY; 5 mg/kg x 4 days) and thoracoabdominal irradiation (TAI; 400 cGy). Graft-versus-host disease (GVHD) prophylaxis included cyclosporin A and prednisone. In addition antithymocyte globulin (ATG) was administered in the pretransplant period to promote engraftment and in the posttransplant period for additional GVHD prophylaxis. Engraftment occurred rapidly (median, 12 days for an absolute neutrophil count > or = 0.5 x 10(9)/L; median, 22 days for platelet count > or = 50 x 10(9)/L). Seventeen patients have sustained engraftment and are transfusion-independent, with Lansky scores of 100% at median follow-up of 27 months. One patient developed graft failure 4 months after initial engraftment and required a second BM infusion. None of the patients developed acute GVHD; 3 patients (16%) developed chronic GVHD. BMT is a feasible option for FA patients having an MSD and should be performed at a young age and early in the course of the disease, before the development of complications. We believe the addition of ATG to the transplant regimen of low-dose CY, TAI, and cyclosporin was responsible for improvement in the survival of FA patients undergoing BMT. The regimen was well tolerated and was associated with a low incidence of complications including GVHD.

Haemopoietic stem/progenitor cell transplant in Fanconi anaemia using HLA-matched sibling umbilical cord blood cells.

There have only been a few reports documenting the use of umbilical cord blood as a source of stem cells for haemopoietic reconstitution. We report our experience with a child with Fanconi anaemia (FA) who underwent a stem cell transplant using umbilical cord blood cells from his HLA matched sibling. Although the engraftment was somewhat slow, it was complete and comparable to other transplants performed in FA patients using HLA matched sibling marrow. There was no graft-versus-host disease. The post-transplant period was uncomplicated and, at a follow-up of 36 months, this child is well with normal blood counts and immune function.

Comparison of saphenous versus jugular veins for central venous access in children with malignancy.

A retrospective analysis was carried out to compare the performance and complications of central catheters inserted into either the saphenous (27) or jugular (52) veins. The saphenous route may be preferred in certain circumstances including extensive mediastinal pathology, prior neck surgery, previous catheter(s), and cosmetic reasons. There was no difference in complications (local or systemic catheter-related infections, catheter occlusions, or venous thrombosis). The incidence of catheter removal due to complications was also not different between sites. Hence, the saphenous route can provide an additional portal of vascular access in selected patients.

Urinary retention--an unusual dystonic reaction to continuous metoclopramide infusion.

Vomiting is one of the most distressing adverse effects of cancer chemotherapy. Metoclopramide by continuous infusion (400 micrograms/kg/h after a loading dose of 2.5 mg/kg) is a novel administration method for optimizing efficacy. A two-year-old boy developed urinary retention on three occasions, once accompanied by priapism and slurred speech, while receiving a continuous infusion. This was reversed by procyclidine, suggesting that it may have been a dystonic reaction.