The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.

Hereditary haemorrhagic telangiectasia (HHT) is supposedly rare in Africa, with only three pathogenic variants documented to date. We describe the clinical and genetic features of HHT patients in central South Africa, who fulfilled the Curaçao criteria. Sixteen patients (median age 38.

Laboratory diagnosis and management of von Willebrand disease in South Africa.

Patients with Von Willebrand disease (VWD) in South Africa are cared for in 17 Hemophilia Treatment Centers. The exact prevalence of the disease is uncertain, but 539 patients are annotated in registries. VWD patients are mostly diagnosed in the five largest academic centers, and the classification of the subtypes is performed by one of these, the VWD testing facility.

Sickle cell disease in a carrier with pyruvate kinase deficiency.

We report a case of sickle cell disease (SCD) in a patient who is a carrier for the sickle mutation with no additional mutations in the beta globin genes. Sequencing of the PK-LR genes showed that she was also heterozygous for the L272V mutation in exon 7, which is known to cause pyruvate kinase (PK) deficiency. It appeared that sickling in the heterozygous state is related to decreased oxygen affinity associated with PK deficiency in this unusual case.