Repetitive reddish discoloration of urine in a female adolescent following short-distance walking on a smooth road: Questions.

A previously healthy 15-year-old girl was evaluated following five episodes of reddish urine discoloration after walking for approximately 30 min on a smooth roadway. In each episode, the discoloration lasted for four to five urinations and followed by normal urine dipstick tests. No other exercise-produced urine discoloration and no other symptoms were reported.

Evaluation of liver fibrosis in patients with thalassemia: the important role of hyaluronic acid.

Patients with transfusion-dependent thalassemia major often develop liver fibrosis due to liver iron overload and/or hepatitis virus C (HCV) infection. Hyaluronic acid (HA) plays a prominent role in the pathogenesis of liver fibrosis and the elevation of serum HA concentration is due to either increased synthesis by inflammatory cells and hepatic stellate cells or impaired degradation by sinusoidal endothelial cells (SECs) and thus is proposed as a non-invasive biomarker of liver fibrosis either by itself and/or included in the Hepascore formula. In this study we evaluated prospectively a screening of liver fibrosis in 201 adult patients aged 19-54 years with transfusion-dependent thalassemia major, based on HA measurements.

Age, beta thalassaemia trait, and iron-deficient anaemia significantly affect reticulocyte indices in pre-school children.

Background: Reticulocyte indices are easy to obtain, low cost parameters and have gained interest in the field of diagnosing anaemias of childhood.

Methods: We assessed distribution, age and gender variation, relation to indices of iron metabolism and diagnostic performance of reticulocyte haemoglobin content (CHr), percentage of microcytic reticulocytes (micro_r), percentage of hypochromic reticulocytes (hypo_r), and percentage of reticulocytes with low CHr (low_CHr) in 386 pre-school children classified in four groups: healthy, iron deficiency (ID), iron deficiency anaemia (IDA), and beta-thalassaemia carriers (beta-thal).

Results: Age had a positive effect in CHr (Spearman's rho = 0.

Effect of inflammation induced by prolonged exercise on circulating erythroid progenitors and markers of erythropoiesis.

Background: Exercise in humans augments the mobilization of circulating hematopoietic progenitor cells (CD34(+)) from the bone marrow. We investigated the effect of inflammation on erythroid marrow activity by mobilization of erythroid progenitor cells (EPs) along with soluble markers of erythropoiesis.

Methods: Ten healthy athletes who participated in an ultradistance foot race participated in the study.

Serum transferrin receptors: Distribution and diagnostic performance in pre-school children.

Soluble transferrin receptors have gained interest in the field of diagnosing anemias. Reference ranges differ according to the method used for the quantification of sTfR. We aim to explore the distributional properties and diagnostic performance of sTfR in pre-school healthy children as well as in children with beta-thalassemia carriers, iron deficiency with normal hematological phenotype (ID) and iron deficiency anemia (IDA).

Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis.

Bone mineral density (BMD) was evaluated in 52 patients with HbS/beta-thalassemia. Seventeen (32%) patients had osteopenia/osteoporosis and 30 (57%) had osteosclerosis. Bone resorption was diminished in patients with osteosclerosis and increased in those with osteopenia/osteoporosis.

A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis.

The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading.

Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a well-characterized autosomal dominant disease caused by mutations in the iron responsive element (IRE) of ferritin L-chain (FTL) mRNA. Mutations in the IRE result in reduced binding of the trans-acting iron regulatory proteins (IRPs) and hence in upregulation of ferritin L-chain synthesis. The disease is characterized by increased L-ferritin in serum and tissues and early onset of bilateral cataracts.

Erythropoietin levels in children and adolescents with inflammatory bowel disease.

Iron deficiency anemia (IDA) and anemia of chronic disease (CDA) are often encountered in patients with inflammatory bowel disease (IBD). Inadequate intake or loss of iron is a clear cause of IDA, but mechanisms of CDA induction are multifactorial and involve erythropoiesis disturbance due to circulating inflammation mediators. The authors investigated erythropoietin (Epo) levels in children and adolescents with IBD and correlated them to disease activity, with the aim of gaining an improved understanding of the role of Epo in CDA.

Ineffective erythropoiesis underlies the clinical heterogeneity of congenital dyserythropoietic anemia type II (CDA II).

Background: Congenital dyserythropoietic anemia type II (CDA II) is an autosomal recessive disease, and is the most common CDA. The qualitative and quantitative defects of erythropoiesis in CDA II, as estimated by the hematological and biochemical parameters at the time of diagnosis, may not reflect the heterogeneity of the disease course of each patient.

Methods: Three pediatric patients with CDA II are herein presented, having an heterogeneous clinical course.

Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management.

Abnormal globin chain biosynthesis may result in deficient quantity (thalassemia) or structural variation (abnormal hemoglobins) and traditionally, they represent two phenotypically distinct groups of disorders. However, the phenotypic expression of unstable hemoglobin variants often combine features of thalassemia together with variable peripheral hemolysis. To achieve definitive diagnosis in a child presenting with hemolytic anemia along with features associated with thalassemia intermedia, we evaluated clinical, hematological, biochemical, globin biosynthetic and molecular data.

Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/alphaTSaudialpha): implications for clinical management.

A single patient with a rare Haemoglobin H (HbH) disease genotype (- -Med/alphaTSaudialpha) was observed to have exceptionally high levels of HbH (> 60%) and paradoxically high total haemoglobin levels. Studies of haematological parameters, blood biochemistry and oxygen transport properties revealed a severe functional anaemia, associated with marked erythropoietic stimulation and a markedly raised cardiac output. This rare case illustrates the complexity of interactions that may be associated with the clinical course of HbH disease, highlighting that haematological parameters alone may lead to spurious evaluation of clinical status.

Arterial elastorrhexis in beta-thalassaemia intermedia, sickle cell thalassaemia and hereditary spherocytosis.

Arterial and stromal elastorrhexis, an elastic tissue disorder, was recently described in beta-thalassaemia major. Histopathological material from 10 patients with thalassaemia intermedia, 14 with sickle cell thalassaemia and 18 with hereditary spherocytosis was examined in order to investigate the specificity of the arteriopathy. Histological re-examination was made in a total of 42 spleens with parasplenic lymph nodes in 14 cases, 26 surgical liver biopsies and 16 gallbladders with associated regional lymph nodes.

Erythropoiesis: Hereditary Spherocytosis in Greece: Collective Data on a Large Number of Patients.

This paper summarizes data from a haematological, biochemical, and clinical study carried out in 73 patients of Greek origin (38 non-splenectomized children and 35 adults; 17 splenectomized) with Hereditary Spherocytosis (HS). Mean haemoglobin levels in the non-splenectomized patients were significantly lower (122 +/- 15 g/L) than those of the splenectomized group (144 +/- 15 g/L). In all patients with HS (non-splenectomized and splenectomized adults, and children) the MCHC values (355 +/- 22, 358 +/- 16 and 356 +/- 16 respectively) were significantly increased compared to a control group, while the percentage of microcytic and hyperchromic red cell subpopulations was significantly increased in the former group of adults.

Quantification of liver iron overload by T2 quantitative magnetic resonance imaging in thalassemia: impact of chronic hepatitis C on measurements.

Purpose: Measurement of liver T2 values seems to be an accurate and sensitive magnetic resonance imaging (MRI) method for the quantification of liver hemosiderosis in multiple transfused patients with thalassemia. Because many of these patients have coexistent chronic hepatitis C virus (HCV) infection, the effect of inflammatory changes on liver T2 values was assessed.

Materials And Methods: Liver MRI studies of 35 HCV+ and 17 HCV- patients with beta-thalassemia, 9 HCV+ patients without thalassemia, and 10 healthy controls of the same age range (13 to 32 years) were reviewed.

Iron overload and urinary lysosomal enzyme levels in beta-thalassaemia major.

Unlabelled: The urinary levels of the lysosomal enzymes N-acetyl-beta-D-glucosaminidase (NAG) (EC 3.2.1.

The impact of neocyte transfusion in the management of thalassaemia.

Transfusional iron overload leading to cardiopathy and other severe complications continues to be a major problem in chronically transfused homozygous beta-thalassaemia patients. It is well known that young red cells (neocytes) survive longer after transfusion and therefore may contribute to the extension of the intervals between transfusions. We evaluated the impact of neocytes in the total annual blood requirements and consequently the transfusional iron load in 18 thalassaemia patients.

Hb Arta [beta 45 (CD4) Phe-->Cys]: a new unstable haemoglobin with reduced oxygen affinity in trans with beta-thalassaemia.

The interaction of rare Hb variants with beta(0)-thalassaemia results in a quasihomozygous state where the erythrocytes contain the variant as the only major adult Hb component. Such a situation is a unique model that enables functional studies even in the case of a neutral variant that could not be isolated from Hb A. We report here an unusual patient carrying Hb Arta, a novel Hb variant [beta 45 (CD4) Phe-->Cys], in trans with beta(0)-thalassaemia gene (beta(0) 39).

The effect of red cell shape on the measurement of red cell volume. A proposed method for the comparative assessment of this effect among various haematology analysers.

Shape changes of abnormally deformed red cells in aperture impedance haematology analysers are known to affect MCV, MCHC and haematocrit estimation. However, different counters vary in the manifestation of this effect. We performed a comparative study among five analysers.