Background: Non-availability of medical and diagnostic facilities of hematological disorders in rural areas of interior Sindh even in urban except Karachi multiple patients still unexplored their diagnosis. Around 10 hematologists are designated in the 33 million population of interior Sindh. Even these peoples did not actually know that they are suffering from some disorder and they marring with each other cousin marriage is very common in their families and in childhood age they had a high occurrence of inherited hematological disorders.

Aims: This pilot project with them to reduce disease occurrence in the new generation and also reduce the incidence of inherited blood disorders.

Methods: Total of 18 families (104 members) was screened and identified in the Diagnostic and Research lab, Hyderabad through structured questionnaires during visits of patients for the hematological opinion of index patient from Civil hospital and interior Sindh. Most of the families were unrelated and belong to different casts of Sindhi, Pushto, and Balochi. First-line and second-line hemostatic, hematological, and biochemical investigations were done. Whole Exome sequencing was done in some patients. Simple descriptive was applied for the analysis of data.

Results: Only 3 families were identified as defects in the VWF gene and Fibrinogen both in the same member. Few members are affected. Rest of the 5 families identified as defected F.XIII, red cell disorders like folate deficiency and iron deficiency like beta-thalassemia minor and major in the same member. The median age group was 10 years old. The majority of daughters were born with only head, neck, and limb and died within 2 years of after birth.

Conclusions: Many novel findings identified in these families but the management of these patients quite miserable. As per published reports, a cocktail of these types of multiple hematological disorders and phenotypic expressions not documented.
 

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/cocktail-of-inherited-hemostatic-and-red-cell-disorders-in-unrelated-families-of-interior-sindh/