13 research outputs found

    Erythrocyte phenotype in a pregnant woman of Sri Lanka. Description of the case and complications related to communication problems

    Get PDF
    Background. TheBombay phenotype is a rare genetic trait which is characterized by the absence of A, B and H antigens on red cells as well as in body secretions. The serum shows the presence of antibodies against antigen H. Patients with this rare blood type are not easily transfusable. We had observed a woman aged 18, at the 20th week of pregnancy, native ofSri Lanka, with an IgG and IgM class anti-H. We report the case and the clinical issues arisen. Materials and methods. The determination of ABO, Rh[D] group, the indirect antiglobulin test (IAT) were performed in tube techniques and in neutral gel microcolumn. Detection for antibodies was performed using ID-Card LISS-Coombs microtubes, in solid phase and with tube techniques. For molecular analysis, the FUT1 and FUT2 genes were sequenced using BigDye terminator v1.1. The study of FUT2 gene was performed after extraction of mRNA using Qiagen kit RNase and then reverse-transcribed into cDNA. Results. TheBombay phenotype was confirmed by serological and molecular analysis techniques. The patient, in collaboration with a cultural mediator, was informed of her immunohaematological condition and a program of assistance was proposed to her. Unfortunately the patient did not return for the next visit, despite of a telephone reminder. During childbirth a haemorrhage occurred and a request of compatible blood for an urgent transfusion arrived at our transfusion service. Fortunately, the haemorrhage was arrested and the patient didn’t need to have any transfusions. Discussion. This case emphasizes the need for an efficient management of rare blood types that are more and more frequent as a result of migration. It is necessary to organize, in strategic points of the national territory, reference centres with better diagnostic capabilities and implement freezing of red blood cells with rare phenotype for diagnostic and therapeutical use. Communication issues are as well important in dealing with this emerging phenomenon

    MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC

    No full text

    A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening

    No full text
    A newborn screening pilot study using tandem mass spectrometry has been set up since 2003. To date more than 15000 newborns have been screened. We reported a newborn affected by benign MMA identified by MS/MS. The analysis of derivatized acylcarnitines and amino acids in dried blood spot was performed using PerkinElmer NeoGram MS2 Kit. The analysis of patient’s blood sample obtained at 3 days of life showed an elevation of propionylcarnitine (C3: 4.38 μM) slightly below the cut-off value (4.6 μM) and a C3/C2 ratio higher than cutoff ( C3/C2 0.20, cutoff 0.18), therefore a repeat of blood spot collection was requested. This second sample, obtained at the age of 28 days, showed a marked increase of C3 and C3/C2. The organic acid analysis in urine demonstrated an increase of methylmalonic acid. The (hydroxy)cobalamin administration (loading) test was carried out and no significant reduction of methylmalonic acid excretion in urine was found. Therefore a deficiency of methylmalonyl-CoA mutase (EC 5.4.99.2) enzyme was suspected. Molecular genetic analysis was performed on the 13 exons and intron- exon boundaries of methylmalonyl-CoA mutase gene (c.DNA NM_00025; g.DNA NT_007592) were analyzed by direct sequencing. The patient resulted compound heterozygote for two already described mutations: N219Y (c.655A>T) and R694W (c.2080C>T). The mutations were confirmed in the parents. The N219Y is a quite frequent mutation in MMA (19% alleles in Caucasians). It was already described associated to severe phenotype (mut0) with low or absent residual enzymatic activity. The Asn 219 is a conserved amino acid and is located at the fourth β strand of the substrate binding (α/β)8 barrel. Modelling analysis suggests that this mutation gives impaired folding and/or poor stability of the protein. The R264W mutation was associated to a milder phenotype (mut-). This residue is located in the protein pocket binding dimethylbenzimidazole portion of cobalamin molecule. Being the protein an homodimer, we suppose that the compound heterozigosity mut0/mut- gives enough molecules with residual enzymatic activity to manifest a milder phenotype. Conclusions: 1- Benign MMAs can be identified using MS/MS in newborn screening. MMA disorders may not produce significant concentrations of C3 and will not be detected. The evaluation of C3/C2 ratio is important to reduce the number of false positive and false negative results. 2- Molecular analysis could be an important tool to predict clinical phenotype 3-The early detection and therapy have had a favorable effect on prevention of metabolic decompensation. However, a long-term study is necessary to assess whether the early detection and intervention may improve the outcome

    The natural history of 6-pyruvoyl-tetrahydropterin synthase (PTPS). A late diagnosed case.

    No full text
    viene riportato un paziente con sindrome di Parkinson e depressione affetto da deficit di PTPS e diagnosticato all'etĂ  di 32 anni

    Tyrosine hydroxylase deficiency presenting with a Biphasic Clinical Course

    No full text
    Tyrosine hydroxylase deficiency, a cause of the autosomal recessive form of L-DOPA responsive dystonia, has been associated with a broad spectrum of movement disorders and clinical courses. We describe a new patient presenting with an early onset spastic paraplegia who later developed a progressive generalized dystonic-dyskinetic syndrome. He markedly improved with a very low dosage of L-DOPA/carbidopa, while higher dosages were not tolerated. Two novel mutations (p.G414R/p.L510Q) were detected in the TH gene
    corecore