scholarly journals Child with unusual combination of sickle cell disease and autosomal recessive agammaglobulinemia associated with a novel CD79a gene mutation

2019 ◽  
Vol 12 (2) ◽  
pp. bcr-2018-227346
Author(s):  
Rosa Martins ◽  
Sofia Fraga ◽  
Isabel Esteves ◽  
Paulo Calhau

This article describes a novel mutation in CD79a gene identified in a child with sickle cell disease (SCD), who was diagnosed with autosomal recessive agammaglobulinaemia in the context of prolonged febrile syndrome. The association of a primary immunodeficiency with SCD in the same child was unexpected.

2021 ◽  
Vol 7 (1) ◽  
pp. 7
Author(s):  
Stephan Lobitz ◽  
Joachim B. Kunz ◽  
Holger Cario ◽  
Dani Hakimeh ◽  
Andrea Jarisch ◽  
...  

Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]


Metallomics ◽  
2017 ◽  
Vol 9 (9) ◽  
pp. 1260-1270 ◽  
Author(s):  
Tigist Kassa ◽  
Michael Brad Strader ◽  
Akito Nakagawa ◽  
Warren M. Zapol ◽  
Abdu I. Alayash

Sickle cell disease (SCD) is an inherited blood disorder caused by a β globin gene mutation of hemoglobin (HbS). TD-1 enhances oxygen affinity and prevents sickling of SS RBCs as well as providing protection against iron oxidation.


2014 ◽  
Vol 42 (2) ◽  
pp. 139-146 ◽  
Author(s):  
Wally R. Smith

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy found mainly in populations of African and Mediterranean descent, including approximately 100,000 Americans. It is also very common in Spanish-speaking regions of Central America, South America, and parts of the Caribbean, in Saudi Arabia, and in India and Sri Lanka. The disorder is characterized most commonly by lifelong recurrent unpredictable vaso-occlusive pain that may be disabling, and by chronic tissue damage and organ dysfunction. There are several genotypes of the disease. Although SCD pain frequency generally varies between genotypes, it also varies between subjects even within genotype. It may worsen from childhood to adulthood. It may vary by gender. Its location, timing, and severity may be unpredictable.Until recently, pain in SCD had been characterized as episodes that were acute, periodic, and relatively rare. Crises were viewed as usually associated with hospitalization. Many patients utilized hospital or emergency care for pain once per year or less, so painful episodes in SCD were called vaso-occlusive “crises.”


1974 ◽  
Vol 133 (4) ◽  
pp. 624-631 ◽  
Author(s):  
T. A. Bensinger

2020 ◽  
Vol 8 (4) ◽  
pp. 390-401 ◽  
Author(s):  
Taryn M. Allen ◽  
Lindsay M. Anderson ◽  
Samuel M. Brotkin ◽  
Jennifer A. Rothman ◽  
Melanie J. Bonner

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