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thalassemia abnormal behavior

T Wada, H Ban, M Matsufuji, N Okamoto, K Enomoto, K Kurosawa, N Aida
BACKGROUND AND PURPOSE: X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and peculiar behavior. More than 200 patients in the world, including >70 Japanese patients, have been diagnosed with ATR-X syndrome...
October 2013: AJNR. American Journal of Neuroradiology
Sohier Yahia, Mohamed Adel El-Hadidy, Abdel-Hady El-Gilany, Rokiah Anwar, Ahmad Darwish, A K Mansour
Thalassemic patients are vulnerable to emotional and behavioral problems. Each patient age group exhibits problems unique to that stage of development, and although up to 80 % of thalassemic patients are likely to have psychological disorders, e.g., anxiety and depression, predictors of these disorders remain poorly understood. The present study was designed to assess the prevalence of anxiety and depression in a sample of Egyptian thalassemic patients and to identify predictors of these psychiatric disorders...
May 2013: International Journal of Hematology
Sanjay Pandey, Rahasya Mani Mishra, Sweta Pandey, Vineet Shah, Renu Saxena
CONTEXT AND OBJECTIVE: Hemoglobin (Hb) D hemoglobinopathies are widespread diseases in northwestern India and usually present with mild hemolytic anemia and mild to moderate splenomegaly. The heterozygous form of Hb D is clinically silent, but coinheritance of Hb D with Hb S or beta-thalassemia produces clinically significant conditions like thalassemia intermedia of moderate severity. Under heterozygous conditions with coinheritance of alpha and beta-thalassemia, patients show a degree of clinical variability...
2012: São Paulo Medical Journal, Revista Paulista de Medicina
F S Pimentel, M R Silva, M H C Ferraz, N O Carvalho, C Perone, D Méndez del Castillo, J N Januario, M B Viana
INTRODUCTION: Several hemoglobin variants have electrophoretic behavior similar to hemoglobin S, which may lead to false diagnosis for sickle-cell disorders in newborn screening programs. A homozygous hemoglobin with S mobility was detected in two unrelated babies in Brazil. METHODS: Isoelectric focusing and high-performance liquid chromatography assays, gene sequencing, and restriction fragment length polymorphism with AfeI were used to characterize the hemoglobin...
December 2011: International Journal of Laboratory Hematology
Florens G A Versteegh, Sandra G J Arkesteijn, Margreet Bakker-Verweij, Karola Haanappel, Peter van Delft, Marion Phylipsen, Judith O Kaufmann, Peter J M J Kok, Gideon W A Lansbergen, Piero C Giordano, Cornelis L Harteveld
We describe a new nondeletional α-thalassemia (α-thal) determinant found in a Moroccan infant and in two members of his family. The new mutation generates an abnormal hemoglobin (Hb) as a consequence of a Pro→Ser amino acid substitution at codon 37 (old nomenclature) of the α2 gene. The new Hb variant is barely separable on high performance liquid chromatography (HPLC) but the expression of the α chain mutant measured on reversed phase chromatography is one-third of that expected from a stable α2 variant, which explains the mild α-thal phenotype observed in the carriers...
2011: Hemoglobin
Norifumi Shioda, Hideyuki Beppu, Takaichi Fukuda, En Li, Isao Kitajima, Kohji Fukunaga
In humans, mutations in the gene encoding ATRX, a chromatin remodeling protein of the sucrose-nonfermenting 2 family, cause several mental retardation disorders, including α-thalassemia X-linked mental retardation syndrome. We generated ATRX mutant mice lacking exon 2 (ATRX(ΔE2) mice), a mutation that mimics exon 2 mutations seen in human patients and associated with milder forms of retardation. ATRX(ΔE2) mice exhibited abnormal dendritic spine formation in the medial prefrontal cortex (mPFC). Consistent with other mouse models of mental retardation, ATRX(ΔE2) mice exhibited longer and thinner dendritic spines compared with wild-type mice without changes in spine number...
January 5, 2011: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Tatsuya Nogami, Hideyuki Beppu, Takashi Tokoro, Shigeki Moriguchi, Norifumi Shioda, Kohji Fukunaga, Toshihisa Ohtsuka, Yoko Ishii, Masakiyo Sasahara, Yutaka Shimada, Hisao Nishijo, En Li, Isao Kitajima
Mutations of the ATRX gene, which encodes an ATP-dependent chromatin-remodeling factor, were identified in patients with α-thalassemia X-linked mental retardation (ATR-X) syndrome. There is a milder variant of ATR-X syndrome caused by mutations in the Exon 2 of the gene. To examine the impact of the Exon 2 mutation on neuronal development, we generated ATRX mutant (ATRX(ΔE2)) mice. Truncated ATRX protein was produced from the ATRX(ΔE2) mutant allele with reduced expression level. The ATRX(ΔE2) mice survived and reproduced normally...
June 2011: Hippocampus
Takahito Wada
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome, OMIM #301040) is one of the syndromes associated with abnormal epigenetic gene regulation, including ICF(DNMT3B), Rett (MECP2), Rubinstein-Taybi (CBP), Coffin-Lowry (RSK2), and Sotos (NSD1) syndromes. It is a syndromic form of X-linked mental retardation, which affects males and is characterized by profound mental retardation, mild HbH disease (alpha-thalassemia), facial dysmorphism, skeletal abnormalities, and autistic behavior. ATR-X syndrome is caused by a mutation in the ATRX gene on the X chromosome (Xq13), which encodes ATRX protein, belonging to the SNF2 family of chromatin-remodeling proteins...
April 2009: Rinsho Byori. the Japanese Journal of Clinical Pathology
Isabelle Zanella-Cleon, Michel Becchi, Philippe Lacan, Piero C Giordano, Henri Wajcman, Alain Francina
BACKGROUND: Hemoglobin (Hb) Groene Hart [alpha119 (H2)Pro-->Ser (alpha1)], also known as Hb Bernalda, is a nondeletional alpha-thalassemic Hb variant that is frequent in southern Italy and North Africa. This variant is not supposed to be produced in the erythrocytes of carriers. The alpha-thalassemic behavior of this variant has been explained as an impaired interaction between the alpha-globin chain and the alpha-Hb-stabilizing protein. METHODS: To separate globin chains, we developed a modified reversed-phase liquid chromatography (RPLC) procedure that uses acetonitrile-water solvents containing up to 3 mL/L trifluoroacetic acid...
June 2008: Clinical Chemistry
Keiko Akahoshi, Hirohumi Ohashi, Yukio Hattori, Shinji Saitoh, Yoshimitsu Fukushima, Takahito Wada
We report a Japanese woman with 46,XX,dup(16)(p13.11p13.3), who closely resembled the phenotype of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, MIM # 301040). Although she never had alpha-thalassemia, she showed characteristic clinical features including severe mental retardation, characteristic facies and behavior. ATR-X is caused by mutations of the ATRX gene. Although the function of ATRX protein has remained unclarified, it is thought to be involved in the regulation of several genes. The only target gene identified so far is the alpha-globin gene at 16p13...
February 1, 2005: American Journal of Medical Genetics. Part A
No abstract text is available yet for this article.
October 20, 1962: Schweizerische Medizinische Wochenschrift
Henri Wajcman, Jean Riou, Angoué P Yapo
Reversed phase high performance liquid chromatography of globin chains is an important additional tool in the study of hemoglobin abnormalities. Using a technique modified from that of Leone et al.,[1] we report here the relative chromatographic behavior of about 200 different hemoglobin variants. This method provides an additional dimension in the presumptive characterization of hemoglobin variants. It was also found to be of special value for measuring the expression of neutral variants, such as thalassemic or unstable hemoglobins, and to identify neutral mutations associated with another variant, resulting in unusual hematological presentations...
August 2002: Hemoglobin
Nathalie G Bérubé, Magdalena Jagla, Cecelia Smeenk, Yves De Repentigny, Rashmi Kothary, David J Picketts
Several X-linked mental retardation syndromes are caused by mutations in the ATRX gene. Common clinical features associated with ATRX mutations include severe mental retardation, characteristic facial anomalies and variable degrees of urogenital defects and alpha-thalassemia. Although the ATRX protein is a member of the SWI/SNF family of chromatin remodeling proteins, little is known about the biochemical activity of the ATRX protein or its in vivo function during development. Here we demonstrate that ATRX is part of a large multiprotein complex similar in size to the SWI/SNF complex...
February 1, 2002: Human Molecular Genetics
S DeBall, F M Gordy
Homozygous beta-thalassemia in an African-American pediatric patient is rare. In homozygous, beta-thalassemia there are characteristic changes due to severe chronic hemolytic anemia. Orofacial characteristics of homozygous beta-thalassemia result from expansion of bone marrow causing skull and facial deformities. This expansion causes clinically recognizable maxillary hyperplasia, severe protrusion of the middle third of the face, and anterior displacement of the incisors producing a typical faces historically referred to as "Cooley's face...
1997: Journal of Clinical Pediatric Dentistry
E J Benz
The thalassemia syndromes were the first of human diseases to become thoroughly examined for the underlying molecular lesions by the application of molecular genetic strategies and recombinant DNA methods. Students of thalassemia have now enjoyed over two decades of experience with this research paradigm. These experiences reveal both the awesome power and the limitations of the "reductionist, deterministic" approach of gene cloning and analysis. Incredibly precise and abundant information about the exact molecular lesions responsible for various forms of thalassemia were rapidly obtained by the use of molecular genetic approaches...
1996: Transactions of the American Clinical and Climatological Association
A Sangare, I Sanogo, M Meite, A Segbena, A H Toure, J P Elenga, L Siransy, O Allangba
Out of 97320 hemoglobin electrophoreses performed in Abidjan between January 1976 and January 1991, all subjects with hemoglobin Lepore were isolated. This trait was identified by three techniques, i.e., alkaline pH electrophoresis, acid pH electrophoresis, and isoelectric focusing. Seventy-nine cases of hemoglobin Lepore were observed. All were heterozygotes with type HbA-Lepore (n = 54), HbC-Lepore (n = 8) or HbS Lepore (n = 17). Where heterozygosis A and C had clinically silent, heterozygosis Hb-S Lepore resulted in a moderate chronic hemolytic anemia and, in all cases, painful episodes similar to those observed during homozygote sickle-cell disease...
1994: Médecine Tropicale: Revue du Corps de Santé Colonial
J G Adams, W T Morrison, R L Barlow, M H Steinberg
Hb Mississippi was discovered in a 6-year-old Chinese girl with chronic anemia and thalassemia intermedia. Family studies revealed that she had inherited the Hb Mississippi from her father as well as inheriting a gene for beta+-thalassemia from her mother. Electrophoretic analyses of the hemolysate of the father of the father and the proband on polyacrylamide gels at pH 8.6 showed that the abnormal hemoglobin had three distinct mobilities. A similar pattern was also observed by isoelectricfocusing. In addition, multiple abnormal peaks were observed by high performance liquid chromatographic hemoglobin separations as well as high performance liquid chromatographic globin chain separation...
1987: Hemoglobin
F J Laso, F Mateos, R Ramos, F Herrero, J L Pérez-Arellano, J M González-Buitrago
A prospective study was carried out in 83 patients with microcytic anemia. 43 had iron deficiency anemia, 28 had heterozygous beta thalassemia not associated with iron deficiency (beta-THNID) and 12 had both conditions. The behavior of red blood cell volume distribution width (RDW) was evaluated in all patients. RDW was higher in patients with iron deficiency (20.62 +/- 4.64) and beta-THNID (15.76 +/- 1.41) than in controls (13.29 +/- 0.92) (p less than 0.0001 for both comparisons). There also were statistically significant differences (p less than 0...
January 13, 1990: Medicina Clínica
G d'Onofrio, G Zini, B M Ricerca, S Mancini, G Mango
Some routine red blood cell (RBC) measurements and indexes (count, mean volume, volume dispersion, and mean hemoglobin [HGB] concentration) can be used to differentiate iron deficiency from heterozygous beta-thalassemia. A number of formulas that incorporate two or more of these measurements have been described to amplify such differences. The H*1 hematology analyzer directly measures volume and HGB concentration of individual RBCs. We have assessed the diagnostic usefulness of conventional and new RBC measurements provided by the H*1 on a learning data set that comprised 119 patients with iron deficiency and 172 patients with beta-thalassemia trait, both untreated and uncomplicated...
January 1992: Archives of Pathology & Laboratory Medicine
P Pich, G Saglio, C Camaschella, O David, M A Vasino, G Ricco, U Mazza
We report the case of an Italian infant girl from Polesine (Po delta region in northern Italy) who was heterozygous for Hb Hasharon and alpha-thalassemia, did not synthesize any normal HbA, and had 3% HbH on electrophoresis. Hematologic and biosynthetic studies on Hb Hasharon carriers of the propositus' family suggest the possibility that the Hb Hasharon gene is linked to an alpha-thalassemia gene. On the other hand, in the Askenazy carriers of Hb Hasharon, Hb Harsharon is probably linked to a normal alpha gene...
February 1978: Blood
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