[Molecular aspects of alpha dn beta thalassemias]. / Aspectos moleculares de las talasemias alpha y beta.

Thalassemia has been considered a recessive, autosomic, hereditary disease, characterized by microcytic, hypochromic, hemolytic anemia, which occurs as the consequence of a defect in the synthesis of the globin chains, the two most frequent types are thalassemias a and b, which in their most severe forms are known as Hydrops Fetalis and Major Thalassemia. The patients who bear thalassemia are concentrated to those places on earth where malaria is endemic, including the Mediterranean region, Northern Africa, The Middle East, India, China and Southern Asia. The simple Heterozygotic states in both types of thalassemia are more benign and may go unnoticed or confused with iron deficiency.

Hematological and biochemical studies in children with Down syndrome.

Eighty-three children with Down syndrome were submitted to hematological and biochemical studies; 69 normal children were included as controls. The variables analyzed were: HbF, HbA2, serum B12 vitamin (B12), folates, total iron and iron binding capacity, hematic cytology, and the red blood cell enzymes adenosine deaminase (ADA), glucose-6-phosphate dehydrogenase (G6PD) and superoxide dismutase (SOD). The most relevant results were: macrocytosis, normal leucocytes, HbF, B12 and folates, as well as high levels of the enzymes ADA and G6PD. An indirect association between macrocytosis, ADA and G6PD is discussed.

[Identification of inborn errors of galactose metabolism in patients with cataracts]. / Identificación de errores innatos del metabolismo de la galactosa en pacientes con cataratas.

133 patients with congenital or idiopathic cataracts were studied (94 patients had ages between 1 month and 14 years; 10 patients had ages between 16 and 50 years and 29 patients did not have an age registry) along with 18 patients with a clinical diagnosis of classic galactosemia. The activity of galactokinase (GALAK) and that of erythrocyte galactose-1-phosphate uridyl transferase (GALT) was measured. There were no individuals with a total deficiency of GALK or GALT. The cataract patients of ages between 1 monthly and 14 years, 3 (3.19%) and 4 (4.25%) showed GALK and GALT levels in the range corresponding to the respective heterozygotes. As compared with the expected incidence of heterozygotes in the general population (0.2% for GALK and 0.8% for GALT) we found a significant rise of individuals with low levels of enzymes for the metabolism of galactose. The possibility that heterozygote galactosemic states contribute a risk factor in the development of cataracts and its therapeutic implications are discussed.

[Fetal hemoglobin and the gamma G/gamma A chain ratio in children with acute lymphoblastic leukemia L1 and L2]. / Hemoglobina fetal y relación de cadenas gamma G/gamma A en niños con leucemia aguda linfoblástica L1 y L2.

PURPOSE: To search in children with acute lymphoblastic leukaemia (ALL) for specific pattern of expression of foetal haemoglobin (HbF) and its G gamma/A gamma chain ratio. MATERIAL AND METHODS: 60 children with ALL were examined: 29 with ALL-L1, and 31 with ALL-L2, and 25 healthy children as control group, which were subdivided in three groups: A) 0-5, B) 6-10 and C) 11-18 years. We performed HbF and HbA2 quantification and Hb electrophoresis. G gamma and A gamma globin chain percentages were obtained with a new method based on the precipitation of the HbF eluate by Singer's method with sulphosalycilic acid, the globin chains were separated in polyacrylamide with Triton X-100 and quantified by densitometry. RESULTS: HbF showed similar levels in both ALL groups by the Betke and Singer's methods; (ALL-L1: 2.2 +/- 1.5%, ALL-L2: 2.0 +/- 1.2%; and ALL-L1: 2.0 +/- 1.2%, ALL-L2: 2.1 +/- 1.5% respectively), but there were statistically significant differences (p < 0.001) when compared with the control group (0.9 +/- 0.4%, and 1.0 +/- 0.6% for Betke and Singer's method). The G gamma/A gamma ratio showed to be different between the ALL-L1 and ALL-L2 (p < 0.001), with higher levels of G gamma in ALL-L1 (51.0%), the ALL-L2 and the control group showed similar G gamma values (37.5% and 42.1% respectively). CONCLUSION: The factors involved in the increase of HbF are similar for both ALL-L1 and ALL-L2. However there seems to be different factors affecting the expression of G gamma or A gamma.

Christian's spondylo-digital syndrome: second familial case.

We studied a mother and daughter with skeletal dysplasia which was characterized clinically by proximal and distal flexion contractures in the phalanges, and by brachydactyly, clinodactyly and ulnar and radial subdislocations of the fingers. Radiologically, the 2nd metacarpal in the daughter was seen to be longer than the other metacarpals, with bone carpal fusion, and flexion contractures of the fingers in both hands. Thoraco-lumbar xyphorotoscoliosis and malformed vertebrae with dyssegmentation of L2-L3, T12 and L1 with cuneiform shape, asymmetry of the pelvic bones and exostotic lesions in the proximal third of the tibia and the distal third of the femur were also noted. The clinical and radiological characteristics were compatible with the syndrome described by Christian et al. in 1975 and called the second metatarsal syndrome. The purpose of this paper was to present a second corroborative familial case and to propose another name: Christian's spondylo-digital syndrome.

The Myhre syndrome: report of two cases.

Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick calvarium, broad ribs, hypoplastic iliac wings and short tubular bones. Advanced paternal age at the propositi's birth suggests an autosomal dominant mutation as the cause of MS.

Identificación de errores innatos del metabolismo de la galactosa en pacientes con cataratas / Identification of inborn metabolic errors of galactose in patientes with cataracts

Se estudiaron 133 pacientes con cataratas congénitas o idiopáticas (94 pacientes con edades entre 1 mes y 14 años, 10 pacientes con edades entre 16 y 50 años y en 29 pacientes no se registró la edad) y 18 pacientes con diagnóstico clínico de galactosemia clásica. Se cuantificaron las actividades de la galactokinasa (GALK) y de la uridil transferasa de la galactosa 1-fosfato (GALT) eritrocitarias. No se identificaron individuos con deficiencia total de GALK o GALT. En el grupo de pacientes con cataratas con edades entre 1 mes y 14 años, 3 (3.19//) y 4 (4.25//) mostraron niveles de GALK y GALT en el rango correspondiente a los heterocigotos respectivamente. En comparación con la incidencia esperada de heterocigotos en la población general (0.2 por ciento para GALK y 0.8 por ciento para GALT) encontramos un incremento significativo de individuos con niveles reducidos de enzimas del metabolismo de la galactosa. Se discute la posibilidad de que los estados galactosémicos heterocigotos constituyen un factor de riesgo para el desarrollo de cataratas y sus implicaciones terapéuticas