HbQ-Iran [α75 (EF4) Asp→His]/−α3.7/β° IVSII.1 G→A in an Iranian Child: First Reported Case.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3783-3783
Author(s):  
Adriana Muniz ◽  
Ronald L. Nagel ◽  
Zhoreh Rahimi ◽  
Asad V. Raygani ◽  
Reza Akramipour ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Microcytic Anemia ◽  
Globin Genes ◽  
The Family ◽  
Moderate Anemia ◽  
Alpha Globin ◽  
Iranian Child ◽  
Hb S ◽  
A Minor ◽  
First Time

Abstract HbQ-Iran [α75 (EF4) Asp→His] is an α-chain variant first described in 1970, which substitution is not involved in the interchain contacts of hemoglobin. It has a slow-moving migration pattern on cellulose acetate at alkaline pH, that resembles the Hb S, but with normal solubility. The quantity of this variant in the heterozygous state has been reported to be 17–19%. Heterozygotes individuals with HbQ-Iran are hematologically asymptomatic and the combination with α+-thalassemia and β0- thalassemia has not been reported up to now. We here described the hematological characteristics of a 5 years old child referred to the clinic of Kermanshah University. Physical examination revealed no enlargement of the spleen, and the initial blood count indicated a mild microcytic anemia with low levels of Hb (10g/dL), a hematocrit of 30.5% and low MCV and MCH (59.3fL and 19.6pg) respectively. DNA analysis revealed the presence of HbQ-Iran, −α3.7 kb deletion of the alpha globin genes and also the presence of the mutation (IVSII.1.G→A) β0-thalassemia in the child. The study of the family revealed the presence of a minor β-thalassemia in the father and the HbQ-Iran in the mother. Both parents were heterozygous for the −α3.7 deletion (−α3.7/α α) in the α-globin genes. The coinheritance of HbQ-Iran with −α3.7 deletion and β-thalassemia resulted in an elevation of the levels of HbQ-Iran to 22.4%. However, the remainder hematological values of the young patient indicated a significant reduction in MCV (59.3 fL) and MCH (19.6 pg), an elevation of HbF (6.3%) and of HbA2 (3.7%) according to a picture of a minor β-thalassemia. This result demonstrated that HbQ-Iran is a benign structural variant, that in combination with β0-thalassemia and in the presence of a α+-thalassemia, produce a minor β-thalassemia picture with moderate anemia and elevation of HbF. The application of DNA technologies allowed the identification for the first time of the presence in one individual of three already known mutations, emphasizing the unique genetic heterogeneity of this population.

Two Novel Somatic Mutations of the ATRX Gene in Female Patients with Acquired Alpha Thalassemia of Myelodysplastic Syndrome (ATMDS).

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1765-1765
Author(s):  
Peter S. Haas ◽  
Michael Schwabe ◽  
Chris Fisher ◽  
Richard Gibbons ◽  
Doug R. Higgs ◽  
...  
Keyword(s):  
Amino Acid ◽  
Peripheral Blood ◽  
Somatic Mutations ◽  
Microcytic Anemia ◽  
Molecular Defect ◽  
Globin Genes ◽  
Female Patients ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Supravital Staining

Abstract Introduction: In contrast to the classical thalassemias, two distinct thalassemias were recently described in which the molecular defect does not reside in the globin genes but in a transcriptional activator of alpha-globin genes. This protein, ATRX, is mutated in the rare inherited disease of alpha-thalassemias (AT) with mental retardation (ATR-X syndrome) whose affected individuals show a mild form of AT. In addition, and independent of the ATR-X syndrome, there have been approximately 100 case reports worldwide of the association of an acquired form of AT with hematological neoplasms, the large majority of those cases being MDS (ATMDS). The clinical characteristics of such patients encompass the typical features of the underlying hematological disorder plus microcytic anemia. The latter is due to massively reduced alpha-globin gene transcription resulting in excess hemoglobin H (HbH), as revealed by supravital staining of peripheral blood erythrocytes and hemoglobin electrophoresis. The molecular defect of ATMDS lies in a mutation of the ATRX protein and, thus, represents a form of acquired alpha-thalassemia. ATMDS shows a striking male preponderance for reasons that are as yet unclear. We systematically studied patients with MDS and low MCV and/or MCH but without iron deficiency for the possible presence of HbH cells (indicative of ATMDS). Supravital staining and sequence analysis of the ATRX gene were performed as described (Steensma et al. Blood.2004;103(6):2019–26). Results: Two female pts with AT-MDS were identified by this strategy. Pat 1 was a 69 year old pt who diagnosed with MDS of the subtype refractory cytopenia with multilineage dysplasia (RCMD), ringed sideroblasts and thrombocytosis (MDS/MPS overlap syndrome, JAK2 negative). She presented with microcytic anemia (Hb 7,5 g/dl, MCV 76,5 fl, MCH 22.4 pg). Supravital staining of a peripheral blood smear revealed massive erythrocytic HbH inclusions. Sequencing of the ATRX coding sequence revealed a novel missense mutation with an A>G transition in codon 2234. This mutation (D2234G) results in an amino acid substitution in ATRX exon 32. It represents the 14th ATRX mutation described thus far and, moreover, the first mutation detected in a female. Pat 2 (61 years old) with initially RCMD and microcytic anemia (Hb 10.4 g/ld, MCV 69 fl, MCH 15.2 pg) had increasing erythrocytosis of 6.93 Mio/μl maximum (also JAK2 negative). Molecular analysis of the ATRX gene also showed a not previously reported ATRX point mutation in exon 8 (G521A) which results in an amino acid change from cysteine to tyrosine and consequently in loss of a zinc finger. Conclusions: Though AT-MDS is mostly diagnosed in males we have identified two female patients, both showing novel ATRX somatic mutations. ATMDS might be more frequent in female than previously thought. Microcytic anemia in association with a hematological neoplasm, most commonly MDS, should alert to ATMDS which is easily diagnosed by supravital staining of peripheral blood smears. The remarkable thrombocytosis and erythrocytosis, respectively, in our 2 pts are at least suggestive of other phenotypic abnormalities possibly associated with the acquired ATRX genotypes on the MDS background.

An overview of the Ephydridae (Diptera) of Saudi Arabia

Zootaxa ◽  
2019 ◽  
Vol 4711 (3) ◽  
pp. 401-445
Author(s):  
HASSAN A. DAWAH ◽  
SYED K. AHMAD ◽  
MOHAMMED A. ABDULLAH ◽  
TADEUSZ ZATWARNICKI
Keyword(s):  
Saudi Arabia ◽  
World Wide ◽  
New Records ◽  
Wide Distribution ◽  
Biological Information ◽  
The Family ◽  
Biodiversity Study ◽  
A Minor ◽  
Future Work ◽  
First Time

Despite the species richness of Ephydridae world-wide (2000 species) and its prominent environmental roles as a minor pest and as a food for wildlife, only 13 species have been recorded from Saudi Arabia. Between 2012 and 2016, a biodiversity study of Diptera was conducted at Jazan, Asir, and Najran in south-western Saudi Arabia, at 22 sites, was performed mainly using Malaise traps and sweep nets. In this study, 43 known species of Ephydridae were identified, 37 of them for the first time from southwestern Saudi Arabia and 16 from Arabian Peninsula. This brings the total number of Ephydridae species in Saudi Arabia to 49 (including previous records). There were a further four species, which could not be identified authoritatively to species level. A list of all species of Ephydridae recorded from Saudi Arabia is appended. Images of thirty-two species are presented. The species recorded in this study are more Palaearctic in origin as compared to other regions. Biological information (where known) and world-wide distribution are included. This study has added new records to the Saudi Arabian checklist of Ephydridae, which will provide the basis for systematic studies and fauna analyses of future work on the family. The need for further field and laboratory work and surveillance is highlighted. 

scholarly journals The Khon Clan and the Sakyapas

2021 ◽  
Vol 13 (2021/1) ◽  
Author(s):  
Alexa Péter
Keyword(s):  
Political Power ◽  
Political Authority ◽  
Close Relative ◽  
Significant Power ◽  
The Family ◽  
A Minor ◽  
Religious Aspects ◽  
First Time

Khon Konchog Gyalpo, the main disciple of Drogmi, founded a monastery at Sakya. It was this monastery that gave its name to the whole monastic order of Drogmi. Konchog was a member of the Khon clan, the family that went on to produce the successive abbots or chief lamas of Sakya who have continued as the heads of this order ever since. The succession of abbots within the family was established on the father-to-son or uncle-to-nephew pattern. In the instance of an abbot remaining celibate, it was his brother or a close relative who continued the family line and oversaw the monastery’s worldly affairs; when the abbot died, he was succeeded by one of his nephews. The Sakyas reached the summit of political power when Sakya Pandita and Phagpa won the confidence and favour of Mongolian khans. The Sakyas were appointed as regents of Tibet, whereby Tibet became subject to a single political authority for the first time after the collapse of the monarchy. The aim of this paper is to show the development of the Khon clan, how a minor aristocratic family was transformed into a significant power in Tibet in both historical and religious aspects, through the efforts of some prominent members of Khon family.

Two Novel Mutations in the α-Globin Genes Leading to α-Thalassemia.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3773-3773
Author(s):  
Deborah Rund ◽  
Ariel Koren ◽  
Lucia Zalman ◽  
Ayelet Ben Barak ◽  
Ariella Oppenheim ◽  
...  
Keyword(s):  
Globin Gene ◽  
Point Mutations ◽  
Microcytic Anemia ◽  
Chromosome 1 ◽  
Acceptor Site ◽  
Globin Genes ◽  
Chromosome 2 ◽  
Mixed Ancestry ◽  
Novel Mutations ◽  
Alpha Globin

Abstract Although deletional α-thalassemia is the most common form of the disease worldwide, in Israel, point mutations leading to α-thalassemia are relatively common. We routinely sequence the α-globin genes when we fail to find deletions which can account for the hematological phenotype. Our PCR is specific for sequencing either the α1 or α2 globin gene. We here report two novel mutations, one in α1 and the other in α2, which lead to a thalassemia phenotype. Case 1. A 5 yr old Druze girl from northern Israel was referred due to microcytic anemia. Her hematological values were: RBC 5x109/L, Hb 8.8 gr%, MCV 55 fl, MCH 17.6 pg, MCHC 31.7gr/dl, RDW 16.2. HbA 2: 2.2%, HbF: 1%. Iron deficiency was excluded (serum iron: 58 mg/dl, transferrin: 247mg%, and ferritin: 46.2 ng/ml) The patient’s physical examination and mental development were normal, without splenomegaly or jaundice. No therapy was required, and transfusion was unnecessary. The parents had very mild microcytic anemia (mother Hb 11 gr% MCV 75.5, father Hb 13.8, MCV 78.6) with normal Hb electrophoresis. DNA of the parents and propositus was sequenced. The child was found to be homozygous (and the parents, heterozygous) for a deletion of a single cytosine (within a stretch of four) at codons 118/119 of the α2 globin gene, leading to a frameshift at codon 119. Case 2. This family is of mixed ancestry, the mother is from Bukhara. The hematological data is presented in the table below. Sequencing of the α-globin genes of the mother revealed an A to G change at the acceptor site of IVS1 at nt 116 in the α1 gene in compound heterozygosity with the well known 5 nt deletion in IVS1 of α2 (HphI). The same IVS1 nt 116 mutation at this exact nucleotide was previously reported by Harteveld (1996) to be found in the α2 globin gene, causing Hb H inclusion bodies when found in combination with 3.7 kb deletional α-thalassemia. We conclude that rare point mutations can still be identified in the α-globin genes which can be the cause of otherwise unexplained α-thalassemia phenotypes. Family 2 hematological data and alpha globin genotype Family member RBC Hb MCV MCH RDW chromosome 1 chromosome 2 del=deletion Mother 5.68 10.7 63.2 18.8 16.4 α2 HphI α1 IVS1-116 Father 6.15 13.4 70.7 21.8 13.9 del 3.7kb del 3.7 kb Son (9 yrs) 5.59 11.1 64.4 19.9 13.7 α2 HphI del 3.7 kb Daughter (7 yrs) 5.44 10.9 64.3 20.0 13.5 del 3.7 kb α1 IVS1-116 Son (2 yrs) 5.55 10.5 61.6 18.9 14.3 del 3.7 kb α1 IVS1-116

Laboratory Recognition of a Rare Hemoglobinopathy

1999 ◽  
Vol 123 (10) ◽  
pp. 963-966
Author(s):  
Cheryl M. Kirk ◽  
Christine N. Papadea ◽  
John Lazarchick
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
High Performance ◽  
Dna Analysis ◽  
Clinical Course ◽  
Chain Reaction ◽  
Molecular Defects ◽  
Alpha Globin ◽  
Hb S ◽  
Polymerase Chain

Abstract This article describes the laboratory investigation of an unusual hemoglobinopathy involving hemoglobin (Hb) S, HbSGPhiladelphia, and α-thalassemia-2 in a patient whose phenotype was HbSC by alkaline electrophoresis. Findings of a mean corpuscular volume of 62 fL and microcytes on the blood smear were inconsistent with HbSC disease. The patient's clinical course over several years had been mildly symptomatic. Testing in our hospital laboratory using isoelectric focusing and cation-exchange high-performance liquid chromatography to separate hemoglobins showed an unknown variant. Additional studies, including globin chain electrophoresis, reverse-phase high-performance liquid chromatography, and polymerase chain reaction–based DNA analysis were performed at reference laboratories, which reported the following findings: HbGPhiladelphia associated with α-thalassemia-2, HbS and HbGPhiladelphia, and the alpha-globin deletions defining the −α3.7/−α3.7 genotype. The hemoglobin molecular defects, α-thalassemia-2, and the pattern of inheritance are discussed.

13-Vertex Carbacobaltaboranes: Synthesis and Molecular Structures of the 4,1,6-, 4,1,8- and 4,1,12-Isomers of Cp*CoC2B10H12

2002 ◽  
Vol 67 (7) ◽  
pp. 991-1006 ◽  
Author(s):  
Anthony Burke ◽  
Ruaraidh McIntosh ◽  
David Ellis ◽  
Georgina M. Rosair ◽  
Alan J. Welch
Keyword(s):  
Spectroscopic Properties ◽  
Crystallographic Analysis ◽  
Molecular Structures ◽  
New Technique ◽  
Crystallographic Study ◽  
The Family ◽  
Partial Degradation ◽  
A New Technique ◽  
A Minor ◽  
First Time

Attempted crystallographic studies of the known compounds 4-Cp-4,1,8-closo-CoC2B10H12 and 4-Cp-4,1,12-closo-CoC2B10H12 were frustrated because of disorder which was impossible satisfactorily to model. Thus the family of Cp* compounds 4-Cp*-4,1,6-closo-CoC2B10H12, 4-Cp*-4,1,8-closo-CoC2B10H12 and 4-Cp*-4,1,12-closo-CoC2B10H12 were prepared. The 11B NMR spectroscopic properties of these compounds are closely similar to those of their Cp analogues. All three compounds were studied crystallographically. The 4,1,8- and 4,1,12-species are isomorphous and partially disordered, however the disorder was successfully modelled and structural analyses of 4,1,8- and 4,1,12-MC2B10 compounds are reported for the first time. A new technique for distinguishing between cage C and B atoms in crystallographic study of (hetero)carboranes is reported. The 12-vertex compound 3-Cp*-3,1,2-closo-CoC2B9H11 is formed as a minor co-product along with 4-Cp*-4,1,6-closo-CoC2B10H12 and is believed to result from partial degradation of the latter. The 12-vertex species has also been subjected to crystallographic analysis.

Buried Narratives: Exhuming the Mother's Story in Oliver Twist

2018 ◽  
Vol 8 (3) ◽  
pp. 247-266
Author(s):  
Michelle L. Wilson
Keyword(s):  
Social Change ◽  
Maternal Inheritance ◽  
The Novel ◽  
Poor Law ◽  
The Family ◽  
The Law ◽  
First Time ◽  
Critical Consideration

Initially, Oliver Twist (1839) might seem representative of the archetypal male social plot, following an orphan and finding him a place by discovering the father and settling the boy within his inheritance. But Agnes Fleming haunts this narrative, undoing its neat, linear transmission. This reconsideration of maternal inheritance and plot in the novel occurs against the backdrop of legal and social change. I extend the critical consideration of the novel's relationship to the New Poor Law by thinking about its reflection on the bastardy clauses. And here, of course, is where the mother enters. Under the bastardy clauses, the responsibility for economic maintenance of bastard children was, for the first time, legally assigned to the mother, relieving the father of any and all obligation. Oliver Twist manages to critique the bastardy clauses for their release of the father, while simultaneously embracing the placement of the mother at the head of the family line. Both Oliver and the novel thus suggest that it is the mother's story that matters, her name through which we find our own. And by containing both plots – that of the father and the mother – Oliver Twist reveals the violence implicit in traditional modes of inheritance in the novel and under the law.

Faktor-Faktor Determinan yang melatar belakangi Kehamilan Remaja di Desa Pandansari Kecamatan Poncokusumo Kabupaten Malang

2020 ◽  
Vol 7 (2) ◽  
pp. 247-255
Author(s):  
Maria Magdalena Setyaningsih ◽  
Emy Sutiyarsih
Keyword(s):  
Sex Education ◽  
Teen Pregnancy ◽  
Teenage Pregnancy ◽  
Well Being ◽  
Case Control ◽  
Control Group ◽  
Case Group ◽  
The Family ◽  
History Of ◽  
First Time

Kehamilan remaja adalah kehamilan yang terjadi pada remaja berusia kurang dari 20 tahunan. Kehamilan remaja memberikan banyak kerugian bagi kesehatan, mental dan psikologis, kesejahteraan ekonomi dan peluang karier, kemiskinan dan prospek kehidupan masa depan remaja. Tujuan penelitian mengidentifikasi faktor determinan yang melatarbelakangi terjadinya kehamilan remaja. Jenis penelitian adalah penelitian analitik kategorik jenis survei kuantitatif dengan desain case control. Populasi semua perempuan yang bertempat tinggal di wilayah dusun Wonosari, Sukosari, dan Krajan Pandansari dan pernah/sedang hamil pertama kali pada usia kurang dari 20 tahun. Teknik pengambilan sampel cluster random sampling besar sampel 73. Berdasarkan hasil model akhir analisis multivariat, diketahui bahwa variabel pendidikan, riwayat kehamilan remaja pada keluarga dan usia menikah merupakan variabel yang berhubungan dengan kejadian kehamilan remaja setelah dikontrol oleh variabel akses informasi, responden berpendidikan rendah memiliki peluang 20,8 kali lebih tinggi, responden yang memiliki riwayat kehamilan remaja pada keluarga memiliki peluang 14,9 kali lebih tinggi, responden yang menikah pada usia <20 tahun memiliki peluang 12,1 kali lebih tinggi, responden dengan pemahaman yang kurang baik terkait penggunaan kondom memiliki peluang 5,9 kali lebih tinggi untuk terjadi kehamilan remaja. Oleh karena itu perlu dibangun karakter buiding, sosial karakter suport untuk para ibu remaja dan keluarga sehingga terbangun interaksi yang baik dalam keluarga yang dilandasi dengan pendidikan dan pemahaman yang baik tentang Pendidikan seksualitas. Teen pregnancy is a pregnancy that occurs in adolescents aged less than 20 years old. Teen pregnancy provides many disadvantages for health, mental, psychological, economic well-being, career opportunities, poverty, and the future life. The aim of the study was to identify the determinants underlying teen pregnancy incidence. This study was a quantitative study with categorical analytic method. The study design used a case control with two comparison groups. The groups were control group and case group. The population in this study was all women who lived in the Wonosari, Sukosari, and Krajan Pandansari district and had or were pregnant for the first time at the age of less than 20 years old. Seventy three respondents were recruited using cluster sampling technique. The case group consists of women who were or had pregnant for the first time at the age of less than 20 years old and their children are currently aged ≤ 1 years old. The control group consists of women who were pregnant for the first time at the age of > 20 years old. The data was collected using a questionnaire. The findings showed that education, history of teen pregnancy in family and the age of marriage were related to the incidence of teen pregnancy after being controlled by information access. Low-educated respondents had 20.8 times higher chance of experiencing teen pregnancy; respondents with a history of teen pregnancy in the family had 4.9 times higher chance of experiencing teen pregnancy; respondents who were married at the age of < 20 years old had 12.1 times higher chance of experiencing teen pregnancy; respondents with poor understanding of condom use had 5.9 times higher chance of teenage pregnancy. In conclusion, the findings suggest to build good interactions in the family based on education and a good understanding of sex education.

New records of some rare species in the family Hyaloscyphaceae (Ascomycota, Helotiales) from Central Russia

2013 ◽  
Vol 47 ◽  
pp. 135-142
Author(s):  
E. S. Popov
Keyword(s):  
Rare Species ◽  
New Records ◽  
Moscow Region ◽  
North Caucasus ◽  
Central Russia ◽  
The Family ◽  
First Time

Three rare species of discomycetes in the family Hyaloscyphaceae are reported from Central Russia (Oryol and Bryansk Regions). Proliferodiscus tricolor is recorded for the first time in Russia. Comments are made on Aeruginoscyphus sericeus and Eriopezia caesia previously reported only from Moscow Region and North Caucasus respectively.

Contribution to the flora of marine algae of the coastal zone of the northeastern part of the Sea of Okhotsk

2018 ◽  
Vol 52 (1) ◽  
pp. 63-73
Author(s):  
N. V. Evseeva
Keyword(s):  
Coastal Zone ◽  
Sea Of Okhotsk ◽  
Marine Algae ◽  
Herbarium Material ◽  
Northeastern Part ◽  
The Sea Of Okhotsk ◽  
The Family ◽  
First Time

The revision of the herbarium material, collected in the northern part of the Sea of Okhotsk in 1965–1966 and stored in VNIRO, allowed to expand the taxonomic list of macrophyte algae of the coastal zone of this area. The locations of discovery of 24 previously unmentioned species are described. Myrionema balticum, Ulvella repens, Syncoryne reinkei, Acrochaetium arcuatum were found in the Sea of Okhotsk for the first time. Most species new for the Sea of Okhotsk is represented by epiphytes of the family Ulvellaceae (Chlorophyta). The final taxonomic list of this region, including literature data, consists of 169 species.

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