scholarly journals Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome

2018 ◽  
Vol 90 (7) ◽  
pp. 105-109
Author(s):  
A A PETRENKO ◽  
A V PIVNIK ◽  
P P KIM ◽  
E Yu DEMIDOVA ◽  
V L SURIN ◽  
...  

Thalassemia and qualitative hemoglobinopathy are hereditary disorders of Hb synthesis that lead to change in the Hb conformation or a decrease in the synthesis of structurally normal Hb, and consequently, to erythron pathology. Many variants of Hb are unstable or have altered affinity for oxygen, and, in heterozygous form can be associated with clinical and hematological manifestations (hemolytic anemia, hypochromic microcytic anemia, erythrocytosis). HbD-Punjab [β121 (GH4) Glu → Gln; HBB: C.364G> C] is variant of Hb carrying the amino acid substitution in the 121 position of β-globin chain. In all cases reported so far, patients with HbD-Punjab/β+-thalassemia (IVSI+5 G-C) combination experienced typical thalassemia with hypochromic microcytosis. HbD-Punjab was detected by electrophoresis from 37 to 94% of total Hb. The article describes rare clinical case of the cohabitation of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in a patient with homozygous variant of Gilbert's syndrome observed in AS Loginov Moscow Clinical Scientific Center.

2021 ◽  
Author(s):  
Yuki Fujimaki ◽  
Takehiko Soutome ◽  
Takayuki Tanaka ◽  
Takeshi Shiba ◽  
Misa Watanabe

2016 ◽  
Vol 56 (12) ◽  
pp. 1164-1166
Author(s):  
Jonathan Leong ◽  
Maria-Stella Serrano

The Lancet ◽  
1995 ◽  
Vol 346 (8988) ◽  
pp. 1494 ◽  
Author(s):  
Yoko Soeda ◽  
Kazuo Yamamoto ◽  
Yukihiko Adachi ◽  
Takeshi Hori ◽  
Sachiko Aono ◽  
...  

The Lancet ◽  
1970 ◽  
Vol 295 (7661) ◽  
pp. 1359-1362 ◽  
Author(s):  
Martin Black ◽  
Sheila Sherlock

PEDIATRICS ◽  
1956 ◽  
Vol 18 (6) ◽  
pp. 959-978
Author(s):  
Hugh W. Josephs

In this work the author has attempted to gain insight into the significance of iron depletion by the use of 4 simple calculations, justification for which is found in recent articles. These are: (a) iron with which the infant is born; (b) iron retained from the food; (c) iron being used by the tissues and therefore unavailable for hemoglobin, and (d) iron combined with the total mass of hemoglobin. With these 4 figures it is possible to estimate the iron still potentially available for use (the "reserves" or "stones"). When the difference between a + b and c + d has reached about zero, depletion is considered to exist. The following characteristics of depletion may be emphasized: Depletion is the result of gain in weight and maximum possible usage of iron. It is therefore a normal result of growth and need not be associated with anemia. As soon as depletion has occurred, the organism is thereafter dependent on current absorption of iron. This is ordinarily sufficient, even with a diet of milk alone, to maintain an adequate concentration of hemoglobin after about 8 to 10 months of age. Severe anemia due to depletion alone is practically confined to premature babies whose relative gain in weight is rapid. Severe anemia in other than premature babies is the result of a number of factors by which iron becomes unavailable or is actually diverted from hemoglobin to storage. Response to iron medication is considerably better in infants with depletion than in those in whom some factor is present that interferes with iron utilization, and which is not connected by the mere giving of iron. The dependence on current absorption, whether the result of depletion or non-availability, introduces a certain precariousness which is apparently characteristic of this time of life. The organism gets along from day to day if nothing happens, but may not be able to meet an emergency, whether this appears as a rapid gain in weight, or a necessity to repair damage done by severe infection. If we consider iron deficiency as the cause of anemia, we can think of deficiency as due to a number of factors of which depletion is only one. The development and characteristics of depletion have been considered in this paper; other factors in iron deficiency will be considered in subsequent papers.


2021 ◽  
Vol 20 (3) ◽  
pp. 53
Author(s):  
E.S. Negasheva ◽  
D.A. Blinova ◽  
M.S. Kornyat ◽  
S.A. Polevshchikova ◽  
N.F. Zatorskaya ◽  
...  

2015 ◽  
Vol 9 (11-12) ◽  
pp. 834 ◽  
Author(s):  
Mohamed Tarchouli ◽  
Adil Boudhas ◽  
Moulay Brahim Ratbi ◽  
Mohamed Essarghini ◽  
Noureddine Njoumi ◽  
...  

Adrenal hemangioma is an extremely rare benign and non-functioning neoplasm of the adrenal gland. We report a case of a 71-year-old woman admitted for intermittent abdominal pain and abdominal distension associated with vomiting and chronic constipation for 5 years. Physical examination revealed a large abdominal mass. Both computed tomography scan and magnetic resonance imaging suggested hemangioma in the right lobe of the liver. Laboratory examinations and tumour markers were within normal limits, except for hypochromic microcytic anemia. The mass was removed intact by conventional surgery and histopathology revealed a cavernous hemangioma of the adrenal gland with no signs of malignancy. Surgical resection was curative, with no recurrence at the 2-year follow-up.


2010 ◽  
Vol 16 (3) ◽  
pp. 321 ◽  
Author(s):  
Hee Jung Lee ◽  
Hee Seok Moon ◽  
Eaum Seok Lee ◽  
Seok Hyun Kim ◽  
Jae Kyu Sung ◽  
...  

2013 ◽  
Vol 61 (3) ◽  
pp. 166 ◽  
Author(s):  
Min-Jae Lee ◽  
Yoon Hwan Chang ◽  
Seung-Hwa Kang ◽  
Se-Kwon Mun ◽  
Heyjin Kim ◽  
...  

Blood ◽  
1991 ◽  
Vol 77 (3) ◽  
pp. 456-460 ◽  
Author(s):  
Z Rolovic ◽  
N Basara ◽  
N Stojanovic ◽  
N Suvajdzic ◽  
V Pavlovic-Kentera

Abstract The Belgrade laboratory (b/b) rat has a hereditary hypochromic microcytic anemia because of defective transmembrane iron transport into erythroblasts. The present study was prompted by our previous work in which we showed that the b/b rat has hypomegakaryocytic thrombocytopenia associated with increased megakaryocyte size. To define the basic mechanism underlying this abnormality in the b/b rat we have studied both megakaryocytopoiesis and granulopoiesis in anemic b/b rats, chronically transfused b/b rats, iron-treated b/b rats, and controls. We have found decreased concentrations of megakaryocyte and granulocyte progenitors in the marrow of b/b rats. Full correction of the severe anemia by chronic transfusion resulted in normalization of megakaryocyte progenitors, small acetylcholinesterase positive cells, megakaryocyte size, and platelet counts, along with granulocyte progenitors. In contrast, the partial correction of anemia obtained by iron treatment resulted in improvement, but not normalization, of these parameters. These findings indicate that abnormal megakaryocytopoiesis in the b/b rat can be best interpreted as a consequence of hypoxia because of the severe anemia. Because we have recently shown that the number of erythroid progenitors in b/b rats is also low, we propose that abnormal megakaryocytopoiesis in this animal is a reflection of an acquired stem cell disorder induced by the prolonged hypoxia resulting from the severe anemia.


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