Detection of β-Thalassemia Carriers by Red Cell Parameters Obtained from Automatic Counters using Mathematical Formulas.

Background: β-thalassemia major is a severe disease with high morbidity. The world prevalence of carriers is around 1.5-7%.

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.

We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy.

Hb TAYBE: clinical and morphological findings IN 43 patients.

Unlabelled: Hereditary sequence variants in globin genes are usually silent and are rarer in α-globin chains than β-globin chains. Some may lead to an unstable protein with a hemolytic or thalassemic phenotype. Hb Taybe is an unstable α-chain hemoglobin variant caused by the deletion of a threonine residue at codon 38 or 39 of the α1 globin gene.

Prevention of β Thalassemia in Northern Israel - a Cost-Benefit Analysis.

Background: β Thalassemia major is characterized by hemolytic anemia, ineffective erythropoiesis and hemosiderosis. About 4% of the world population carries a Thalassemia gene. Management includes blood transfusions and iron chelation.

Incidental findings of variant hemoglobin during hemoglobin A(1c) testing.

A variant hemoglobin fraction may be an incidental finding during HbA(1c) analysis using the G8 Tosoh HPLC analyzer, but it is unclear if the retention times and fraction patterns can reliably predict the findings of a high-performance liquid chromatography (HPLC) β-thalassemia program (Bio Rad Variant II analyzer). We chose 100 samples sent for HbA(1c) determinations (G8 Tosoh) with an incidental finding of variant hemoglobin and did a reflex test using the Bio Rad Variant II analyzer (β-thalassemia program). Two observers attempted to predict the results with that analyzer from fraction patterns and retention times of the hemoglobin variants detected with the G8.

Non-therapeutic anti-FXa levels are common among medical ward patients treated with enoxaparin.

Thromboembolism is treated with a weight-adjusted enoxaparin dose without the need for laboratory monitoring. This study aims to determine the prevalence of sub and supra-therapeutic anti-factor Xa (aFXa) levels among medical ward patients treated with enoxaparin, and to identify potential factors associated with non-therapeutic aFXa levels. aFXa levels were measured in a cohort of medical ward patients treated with curative enoxaparin regimen (1 mg/kg bid) in the Ha'emek Medical Center in the northeastern area of Israel.

Origin and expansion of four different beta globin mutations in a single Arab village.

In Israel, as in several countries of the Mediterranean basin, beta-thalassemia is frequent among Arabs, and many different mutations in the beta globin gene have been identified. In a single Arab village, three different thalassemia mutations, as well as the sickle-cell mutation, were characterized. Using genealogical data as well as the results of screening in the village population, we were able to demonstrate/speculate on how mutations were introduced into the village and how they later expanded.

Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis.

A 3-year-old child with idiopathic hypereosinophilic syndrome (IHES) presented with sore throat and pharyngeal exudate. Recurrent throat cultures were negative and microscopic section of the exudate revealed an extensive eosinophilic infiltration. Fourteen months later, the child still has marked hypereosinophilia and pharyngeal involvement without other organ involvement.