spherocytosis, hereditary, type 1

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spherocytosis, hereditary, type 1

An autosomal dominant or recessive haematologic disorder (OMIM:182900) characterised by numerous abnormally shaped, generally spheroid erythrocytes accompanied by chronic haemolytic anaemia.

Molecular pathology
Caused by defects of ANK1, which encodes a protein that binds to the erythrocyte membrane protein band 4.2.
References in periodicals archive ?
Completion will occur following satisfaction of provisions in the HS1 concession agreement relating to a change of control of HS1.
Figure 3 shows two sequences of flame propagation from endoscopic unintensified high-speed cinematography in the 4-cylinder automotive engine, HS1. As opposed to the images in Figure 2 details of the spark are discernible here.
The managing director of Southeastern, Charles Horton, said, 'We're really pleased to offer this trial Boxing Day service for our passengers thanks to the collaboration with HS1 and the DfT.
Since then, as successive sections of the high-speed line in the UK have been completed those journey times have fallen considerably.With the completion of HS1 five years ago today, the London-Paris journey time was slashed again to 2h15 and London Brussels to 2h00.
All isolates with high caspofungin MIC ([greater than or equal to] 0.5 [micro]g/mL) had mutation in the HS1 and/or HS2 region of FKS genes.
HS1 is also used by the Japanese-built Javelin trains operated on domestic services in Kent by the Southeastern train company.
Tim Smart, Director Engineering Assets at HS1, said the company
The result was development of a controller that can provide high-speed, high-reliability storage functions and the commercialization and start of shipments of the HS1 series of SSD equipped with that controller.
In addition, the Optima stacker HS1 is the ideal complement to the Optima Group, Schwabisch Hall, Germany.
Of the two, HS1 is a myosin II null mutant that does not express conventional myosin, which is responsible for production of major mechanochemical forces (7).