scholarly journals A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency

2013 ◽  
Vol 33 (5) ◽  
pp. 404-406 ◽  
Author(s):  
H M Yaish ◽  
R D Christensen ◽  
A Agarwal
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Hereditary Spherocytosis ◽  
Erythrocyte Indices ◽  
Alpha Spectrin ◽  
Normal Erythrocyte

scholarly journals Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

2021 ◽  
Vol 3 (1) ◽  
pp. 11-14
Author(s):  
Sadia Saber ◽  
Mohammad Dabir Hossain ◽  
Mohammed Tarek Alam ◽  
Mohammad Monower Hossain ◽  
Suhail Gulzar
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Rare Case Report ◽  
Males And Females ◽  
Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha-spectrin gene defects

2018 ◽  
Vol 66 (1) ◽  
pp. e27480
Author(s):  
Nidhi Bhatt ◽  
Jerome M. Loew ◽  
Patrick Gallagher ◽  
Nupur Mittal
Keyword(s):  
Hereditary Spherocytosis ◽  
Alpha Spectrin ◽  
Gene Defects

scholarly journals Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin

Blood ◽  
1991 ◽  
Vol 77 (1) ◽  
pp. 165-173 ◽  
Author(s):  
M Hanspal ◽  
SH Yoon ◽  
H Yu ◽  
JS Hanspal ◽  
S Lambert ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Hereditary Spherocytosis ◽  
Normal Values ◽  
Binding Protein ◽  
Mrna Levels ◽  
Slot Blot ◽  
Primary Defect ◽  
Control Range ◽  
Severe Deficiency ◽  
Alpha Spectrin

Abstract While varying degrees of spectrin deficiency have been found in the majority of patients with hereditary spherocytosis (HS), a combined severe deficiency of both spectrin and the spectrin-binding protein, ankyrin, has been reported only in two patients with severe HS. To elucidate the molecular basis of these protein deficiencies, we have studied the synthesis, assembly, and the mRNA levels of spectrin and ankyrin in peripheral blood reticulocytes in one of the previously reported probands. Pulse-labeling studies showed that in HS reticulocytes, the synthesis of alpha-spectrin was comparable with control reticulocytes while that of beta-spectrin was increased about fourfold, presumably reflecting increased erythropoietic drive. On the HS reticulocyte membrane, the amount of newly assembled spectrin was reduced to about half of the control values, presumably reflecting a decrease in the synthesis of the spectrin binding protein, ankyrin: the ankyrin synthesis was nearly absent in the cytosol and the amounts of membrane-associated ankyrin were reduced to about half of the normal values. The changes in the amounts of spectrin and ankyrin mRNAs quantitated by slot blot and Northern blot analyses were comparable with changes in the synthesis of these proteins: The alpha spectrin mRNA was within a control range and the beta-spectrin mRNA was slightly increased, while the amounts of ankyrin mRNA were reduced to about 50% of control values. We conclude that the primary defect underlying the combined spectrin and ankyrin deficiency is a deficiency of ankyrin mRNA leading to a reduced synthesis of ankyrin which, in turn, underlies the decreased assembly of spectrin on the membrane.

scholarly journals Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis

Blood ◽  
1991 ◽  
Vol 78 (11) ◽  
pp. 3043-3051 ◽  
Author(s):  
CF Whitfield ◽  
JB Follweiler ◽  
L Lopresti-Morrow ◽  
BA Miller
Keyword(s):  
Blood Cells ◽  
Autosomal Dominant ◽  
Hereditary Spherocytosis ◽  
Degradation Products ◽  
Osmotic Fragility ◽  
In Utero ◽  
Total Cell ◽  
Severe Deficiency ◽  
History Of ◽  
Alpha Spectrin

Abstract A child diagnosed in utero with hydrops fetalis and a hematocrit of 6.4% was studied to determine the etiology of the anemia. Fetal red blood cells (RBCs) obtained during in utero transfusion had extremely abnormal osmotic fragility. A maternal history of mild autosomal dominant hereditary spherocytosis was present, and the father, who was hematologically normal, had a slightly abnormal osmotic fragility test. The patient was transfusion dependent after birth, with circulating nucleated RBCs but less than 1% reticulocytes. The patient's anemia failed to respond to splenectomy. Because mature RBCs of the patient were not available for study, progenitor-derived erythroblasts grown in culture were investigated. Immunodot assays of the patient's progenitor- derived cells showed a total cell spectrin content 26% of normal. Immunoprecipitation of whole burst-forming units-erythroid-derived cells and solubilized membranes from cells pulse-labeled with 35S- methionine showed a severe deficiency in alpha-spectrin synthesis and a markedly reduced amount of alpha- and beta-spectrin on cell membranes. No alpha-spectrin degradation products were found within the cells or were produced during membrane preparation. Ankyrin content and band 3 synthesis were not different from control. Inheritance of two genetic defects causing severely reduced alpha-spectrin synthesis is proposed as the cause of the lethal anemia, resulting in cell fragmentation during precursor enucleation or during egress from bone marrow.

scholarly journals Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin

Blood ◽  
1991 ◽  
Vol 77 (1) ◽  
pp. 165-173
Author(s):  
M Hanspal ◽  
SH Yoon ◽  
H Yu ◽  
JS Hanspal ◽  
S Lambert ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Hereditary Spherocytosis ◽  
Normal Values ◽  
Binding Protein ◽  
Mrna Levels ◽  
Slot Blot ◽  
Primary Defect ◽  
Control Range ◽  
Severe Deficiency ◽  
Alpha Spectrin

While varying degrees of spectrin deficiency have been found in the majority of patients with hereditary spherocytosis (HS), a combined severe deficiency of both spectrin and the spectrin-binding protein, ankyrin, has been reported only in two patients with severe HS. To elucidate the molecular basis of these protein deficiencies, we have studied the synthesis, assembly, and the mRNA levels of spectrin and ankyrin in peripheral blood reticulocytes in one of the previously reported probands. Pulse-labeling studies showed that in HS reticulocytes, the synthesis of alpha-spectrin was comparable with control reticulocytes while that of beta-spectrin was increased about fourfold, presumably reflecting increased erythropoietic drive. On the HS reticulocyte membrane, the amount of newly assembled spectrin was reduced to about half of the control values, presumably reflecting a decrease in the synthesis of the spectrin binding protein, ankyrin: the ankyrin synthesis was nearly absent in the cytosol and the amounts of membrane-associated ankyrin were reduced to about half of the normal values. The changes in the amounts of spectrin and ankyrin mRNAs quantitated by slot blot and Northern blot analyses were comparable with changes in the synthesis of these proteins: The alpha spectrin mRNA was within a control range and the beta-spectrin mRNA was slightly increased, while the amounts of ankyrin mRNA were reduced to about 50% of control values. We conclude that the primary defect underlying the combined spectrin and ankyrin deficiency is a deficiency of ankyrin mRNA leading to a reduced synthesis of ankyrin which, in turn, underlies the decreased assembly of spectrin on the membrane.

scholarly journals XERODERMA PIGMENTOSA WITH MULTIPLE CUTANEOUS MALIGNANCIES– A RARE CASE REPORT AND REVIEW OF LITERATURE

2013 ◽  
Vol 03 (01) ◽  
pp. 76-78
Author(s):  
Rohan Shetty ◽  
Girish B. S. ◽  
Rajesh Ballal ◽  
Harish S. Permi ◽  
Pramodh Makannavar ◽  
...  
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Skin Aging ◽  
Malignant Neoplasms ◽  
Review Of Literature ◽  
Rare Case Report ◽  
The Face ◽  
Xeroderma Pigmentosa ◽  
Increase In Risk

AbstractXeroderma pigmentosa is a rare autosomal recessive disorder, characterized by photosensitivity, pigmentary changes, premature skin aging, and marked increase in risk of developing malignant neoplasms of the skin and eyes. Here we present a 13 year old girl with xeroderma pigmentosa who developed multiple cutaneous malignancies in the face and upper limb.

scholarly journals Acute Pancreatitis as a Complication of Sickle Cell Anaemia

Reports ◽  
2018 ◽  
Vol 1 (3) ◽  
pp. 19
Author(s):  
Parisa Moori ◽  
Alexios Dosis ◽  
Zoheb Ahmad ◽  
Ambareen Kausar ◽  
Diana Triantafyllopoulou
Keyword(s):  
Acute Pancreatitis ◽  
Sickle Cell ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Sickle Cell Anaemia ◽  
Autosomal Recessive Disease ◽  
Physiological Changes ◽  
Common Cause ◽  
Patient Morbidity ◽  
Abnormal Haemoglobin

A common cause of abdominal pain is acute pancreatitis, with the majority of cases being attributed to gallstones and excess alcohol. Sickle cell anaemia (SCA) is an autosomal recessive disease causing the production of abnormal haemoglobin. Physiological changes can lead to vaso-occlusion in sickle cell anaemia. Cholelithiasis is frequently seen in patients with SCA and complications from this can increase patient morbidity. We present a rare case of acute pancreatitis inducing a vaso-occlusive crisis.

Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Ritesh K. Agrawala ◽  
Arun K. Choudhury ◽  
Binoy K. Mohanty ◽  
Anoj K. Baliarsinha
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Gonadal Dysgenesis ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Hormone Deficiency ◽  
Clinical Report ◽  
Perrault Syndrome

AbstractPerrault syndrome is a rare genetically heterogeneous autosomal recessive group of disorders described in 1951 by Perrault as gonadal dysgenesis with deafness. Here we present a rare case of sporadic Perrault syndrome with short stature and growth hormone deficiency (GHD). Although there was a report on partial GHD in Perrault, our case is a first of its kind with documented GHD (Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. The Perrault syndrome: clinical report and review. Am J Med Genet 1988;31:623–9). We report this case because of the rarity of keeping this condition as a differential diagnosis while evaluating for short stature with amenorrhea.

scholarly journals An observation of autosomal recessive hyper-IgE syndrome: a rare case report

2017 ◽  
Vol 104 (6) ◽  
pp. 676-679
Author(s):  
Tasleem Arif ◽  
Mohammad Adil ◽  
Syed Suhail Amin ◽  
Konchok Dorjay
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Hyper Ige Syndrome ◽  
Rare Case Report
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